The ESHG is proud to announce this year’s winners:
– Young Investigator Awards for Outstanding Science:
Karolis Šablauskas, NL; Diewertje Houtman, NL; Zhongbo Chen, UK; Cesar Prada-Medina, DE; Aude Beyens, BE.
– Isabelle Oberlé Award for Research on Genetics of Intellectual Disability: Eva D’haene, BE
– Lodewijk Sandkuijl Award for the best talk in Statistical Genetics: Liza Darrous, CH
– Vienna Medical Academy Award for the best talk in Translational Medicine: Huiwen Che, BE
– Mia Neri Award for the best talk in Cancer Research: Marie Coutelier, CA
– ELPAG Award for the best talk in the ELPAG track: Rowan Forbes Shepherd, AU
Congratulations!
The ESHG awards prizes of EUR 500.- (together with a free participation at the next meeting) for outstanding research by young scientists presented as a spoken contribution at the conference, namely:
– Young Investigator Awards for Outstanding Science
– Isabelle Oberlé Award for Research on Genetics of Intellectual Disability
– Lodewijk Sandkuijl Award for the best talk in Statistical Genetics
– Vienna Medical Academy Award for the best talk in Translational Medicine
– Mia Neri Award for the best talk in Cancer Research
– ELPAG Award for the best talk in the ELPAG track
All young scientists who have applied during the abstract submission are nominees for the awards. Each nominee must be first author (i.e. presenting author) of the abstract submitted for spoken presentation and should not be more than four years post-doctoral and not a Principal Investigator (P.I.).
We have asked the candidates to answer the following questions:
- Q1: Date and city of birth
- Q2: What is your current position?
- Q3: Why did you choose a career in genetics?
- Q4: What is so interesting about the research you are presenting at ESHG 2020?
These authors will present on Saturday, June 6, 2020
Q1:
9th Aug 1995, Cholet (France)
Q2:
PhD Student
Q3:
I have always been interested in molecular biology as genetics is at the basis of everything. Deciphering the complex mechanisms underlying ocular disease is a tough challenge and I am glad to take part in it.
Q4:
The research I will present is really compelling as it presents an ultra-rare pathology affecting iris development. Our work aims to understand the cause of this disease and how it is linked to other ocular conditions such as primary open-angle glaucoma.
9th Aug 1995, Cholet (France)
Q2:
PhD Student
Q3:
I have always been interested in molecular biology as genetics is at the basis of everything. Deciphering the complex mechanisms underlying ocular disease is a tough challenge and I am glad to take part in it.
Q4:
The research I will present is really compelling as it presents an ultra-rare pathology affecting iris development. Our work aims to understand the cause of this disease and how it is linked to other ocular conditions such as primary open-angle glaucoma.
Clementine will speak about “Ablation of the congenital microcoria (MCOR) critical region on 13q32.1 activates common-type glaucoma signaling pathways challenging a developmental etiology of MCOR-associated glaucoma” in the session C06 Sensory Disorders.
Q1:
05/05/1988, Faenza (Italy)
Q2:
Postdoc fellow
Q3:
Genetics has always been a fascinating subject, specially in the context of human inherited and de novo disorders of the brain development and function.
Q4:
At the conference I will be presenting our findings on the genetic etiology and mechanisms involved in the pathogenesis of pediatric drug-resistant epilepsies associated with focal malformations of brain development.
05/05/1988, Faenza (Italy)
Q2:
Postdoc fellow
Q3:
Genetics has always been a fascinating subject, specially in the context of human inherited and de novo disorders of the brain development and function.
Q4:
At the conference I will be presenting our findings on the genetic etiology and mechanisms involved in the pathogenesis of pediatric drug-resistant epilepsies associated with focal malformations of brain development.
Sara will speak about “Genomic and transcriptomic profiling of malformations of cortical development: from tissue to single-cell resolution” in the session PL2 What’s New? Highlight Session.
Q1:
13/08/1992 Valdobbiadene (TV), Italy
Q2:
PhD Student
Q3:
When my mother brought me to her research laboratory, I discovered my passion for science, specifically biology.
Since then, I have been fascinated by the human genome and in particular by its alterations that cause genetic disorders. With the recent developments in the field of genome editing, I believe that we will be able to correct some of these defects and develop promising approaches for innovative therapeutic treatments.
Q4:
My research led to the identification of a new candidate gene involved in hereditary hearing loss, one of the most common disorders of the sensory neural system. Importantly, I was able to explore the expression of the identified candidate in human embryo’s inner ear.
Finally, I took advantage of an innovative technology to assess the hearing ability of fish which mimics clinical examination of hearing in humans. The developed experimental pipeline allows us to use Zebrafish as an animal model to discover new genetic causes of deafness.
13/08/1992 Valdobbiadene (TV), Italy
Q2:
PhD Student
Q3:
When my mother brought me to her research laboratory, I discovered my passion for science, specifically biology.
Since then, I have been fascinated by the human genome and in particular by its alterations that cause genetic disorders. With the recent developments in the field of genome editing, I believe that we will be able to correct some of these defects and develop promising approaches for innovative therapeutic treatments.
Q4:
My research led to the identification of a new candidate gene involved in hereditary hearing loss, one of the most common disorders of the sensory neural system. Importantly, I was able to explore the expression of the identified candidate in human embryo’s inner ear.
Finally, I took advantage of an innovative technology to assess the hearing ability of fish which mimics clinical examination of hearing in humans. The developed experimental pipeline allows us to use Zebrafish as an animal model to discover new genetic causes of deafness.
Sissy will speak about “Whole Exome Sequencing, Molecular Assays, Immunohistology and Animal Models associate USP48 to Hereditary Hearing Loss” in the session C06 Sensory Disorders.
Q3:
Genetics is crucial for us to understand organisms better.
Q4:
The cfDNA haplotyping approach offers an additional tool for diagnostic labs and provide care needed in pregnancy management.
Genetics is crucial for us to understand organisms better.
Q4:
The cfDNA haplotyping approach offers an additional tool for diagnostic labs and provide care needed in pregnancy management.
Huiwen will speak about “Non-invasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNA” in the session C01 From carrier screening to infertility and fetal diagnostics.
Q1:
05.03.1990, Voghera (PV) – Italy
Q2:
Postdoctoral Researcher
Stefan Mundlos Research Group “Development and Disease”
Max Planck Institute for Molecular Genetics – Berlin, Germany
Q3:
When it comes to science, nothing draws my attention more than anything related to genetics. Every time I listen, read, study something about genetics, I feel like “Yes, this is what I love!”. And I am very passionate about discovering the possible pathomechanisms underlying different human genetic diseases.
Q4:
Our study shows how disruption of the 3D chromatin conformation and gene regulation at the FGF8 locus is the cause of SHFM3, a congenital limb malformation which has been studied for many years, but whose precise molecular pathomechanism has been so far unknown. We also provide new insights into the functional role of the chromatin regulatory domains observed at this locus where important developmental genes are located.
05.03.1990, Voghera (PV) – Italy
Q2:
Postdoctoral Researcher
Stefan Mundlos Research Group “Development and Disease”
Max Planck Institute for Molecular Genetics – Berlin, Germany
Q3:
When it comes to science, nothing draws my attention more than anything related to genetics. Every time I listen, read, study something about genetics, I feel like “Yes, this is what I love!”. And I am very passionate about discovering the possible pathomechanisms underlying different human genetic diseases.
Q4:
Our study shows how disruption of the 3D chromatin conformation and gene regulation at the FGF8 locus is the cause of SHFM3, a congenital limb malformation which has been studied for many years, but whose precise molecular pathomechanism has been so far unknown. We also provide new insights into the functional role of the chromatin regulatory domains observed at this locus where important developmental genes are located.
Giulia will speak about “TAD-shuffling at the FGF8 locus causes Split-Hand/Foot Malformation type 3” in the session PL2 What’s New? Highlight Session.
Q1:
14 November 1992, Belgium
Q2:
PhD student
Q3:
Genetics is at the root of everything we are as humans: evolution, traits, disease … I cannot think of a more exciting field of study.
Q4:
The rapid development of novel sequencing technologies has lead to an enormous increase in the identification of structural variation in the human genome. Most of these variants impact non-coding genomic regions. Consequently, one of the next great challenges in genetics is the functional interpretation of such non-coding variation. Our study tackles this challenge for the 5q14.3 region, by mechanistically dissecting its regulatory components during neurodevelopment.
14 November 1992, Belgium
Q2:
PhD student
Q3:
Genetics is at the root of everything we are as humans: evolution, traits, disease … I cannot think of a more exciting field of study.
Q4:
The rapid development of novel sequencing technologies has lead to an enormous increase in the identification of structural variation in the human genome. Most of these variants impact non-coding genomic regions. Consequently, one of the next great challenges in genetics is the functional interpretation of such non-coding variation. Our study tackles this challenge for the 5q14.3 region, by mechanistically dissecting its regulatory components during neurodevelopment.
Eva will speak about “Mechanistic dissection of chromatin topology disruption in the 5q14.3 MEF2C locus as an indirect driver of neurodevelopmental disorders” in the session C02 Intellectual Disability.
Q1:
May 7th 1989, ANDKET Lebanon
Q2:
I am currently a post-doc in the ‘Cardiovascular Structural Diseases’ team in the Laboratory for Vascular Translational Science, INSERM U1148 at Bichat Hospital in Paris, France. I also give lectures on human genetics and clinical biochemistry at the school of pharmacy of Saint-Joseph university of Beirut in Lebanon.
Q3:
After I obtained my pharmacy degree, I decided to pursue my passion for science and work in the research field. Understanding how human diseases are transmitted in families and what makes a group of people more susceptible to a certain disorder can help in not only understanding the physiopathology of these complex disorders but might also reveal new pathways that could lead to new therapeutic targets or biomarkers, which improve diagnosis and treatments.
Q4:
I am presenting my research that helped identifying a new gene in thoracic aortic aneurysm and dissection, a complex inherited disorder that still lacks targeted treatment other than appropriate prevention of its life-threatening complications. This work contributes to a better understanding of the physiopathology of the disease, its genetic diagnosis, prevention and eventually its treatment.
May 7th 1989, ANDKET Lebanon
Q2:
I am currently a post-doc in the ‘Cardiovascular Structural Diseases’ team in the Laboratory for Vascular Translational Science, INSERM U1148 at Bichat Hospital in Paris, France. I also give lectures on human genetics and clinical biochemistry at the school of pharmacy of Saint-Joseph university of Beirut in Lebanon.
Q3:
After I obtained my pharmacy degree, I decided to pursue my passion for science and work in the research field. Understanding how human diseases are transmitted in families and what makes a group of people more susceptible to a certain disorder can help in not only understanding the physiopathology of these complex disorders but might also reveal new pathways that could lead to new therapeutic targets or biomarkers, which improve diagnosis and treatments.
Q4:
I am presenting my research that helped identifying a new gene in thoracic aortic aneurysm and dissection, a complex inherited disorder that still lacks targeted treatment other than appropriate prevention of its life-threatening complications. This work contributes to a better understanding of the physiopathology of the disease, its genetic diagnosis, prevention and eventually its treatment.
Angela will speak about “Pathogenic variants in THSD4, encoding the ADAMTS-Like 6 protein, predispose to inherited thoracic aortic aneurysm
” in the session C05 Elucidating the function of cardiac genes.
Q1:
27-03-1986, Cantabria, Spain
Q2:
I am a postdoctoral researcher at the Molecular Oncogenomics laboratory in the Centre hospitalier universitaire Sainte-Justine in Montreal, Canada, under the supervision of Professor Sinnett. I was recently awarded with a competitive fellowship of the Canadian Intitutes of Health Research (CIHR) to continue my research at the current position.
Q3:
I focused on Biomedical Sciences because I wanted to contribute to patient care and advance our understanding of complex illnesses. In this scenario, Genetics and Genomics offered the possibility of diagnosing, treating, preventing and curing many diseases and, at the same time, generating new knowledge to improve health, showing the potential of this career.
Q4:
I am studying circular RNAs in childhood leukemia. CircRNAs are new molecules re-discovered few years ago that are emerging as promising biomarkers in cancer research for both diagnosis and treatment. A comprehensive understanding of circRNAs in the context of this disease is fundamental for the pursuit of translational research involving circRNA.
27-03-1986, Cantabria, Spain
Q2:
I am a postdoctoral researcher at the Molecular Oncogenomics laboratory in the Centre hospitalier universitaire Sainte-Justine in Montreal, Canada, under the supervision of Professor Sinnett. I was recently awarded with a competitive fellowship of the Canadian Intitutes of Health Research (CIHR) to continue my research at the current position.
Q3:
I focused on Biomedical Sciences because I wanted to contribute to patient care and advance our understanding of complex illnesses. In this scenario, Genetics and Genomics offered the possibility of diagnosing, treating, preventing and curing many diseases and, at the same time, generating new knowledge to improve health, showing the potential of this career.
Q4:
I am studying circular RNAs in childhood leukemia. CircRNAs are new molecules re-discovered few years ago that are emerging as promising biomarkers in cancer research for both diagnosis and treatment. A comprehensive understanding of circRNAs in the context of this disease is fundamental for the pursuit of translational research involving circRNA.
Angela will speak about “Characterization of circRNA profiles in childhood acute lymphoblastic leukemia” in the session C04 Basic research in cancer.
Q1:
7th of August 1986 in Paris
Q2:
I am a lab geneticist in the Lyon University Hospital.
Q3:
During medical school I realized that I was particularly interested in challenging diagnoses. This progressively me pushed me to cytogenetics as I was also interested in developing visual skills. My geek side is entirely satisfied with all uprising genomic technologies.
Q4:
Through a large collaboration we collected 20 complex chromosomal rearrangements. Breakpoint characterization through genome sequencing revealed biased distribution throughout the genome revealing new elements around chromosome biology both for complex and simple rearrangements.
7th of August 1986 in Paris
Q2:
I am a lab geneticist in the Lyon University Hospital.
Q3:
During medical school I realized that I was particularly interested in challenging diagnoses. This progressively me pushed me to cytogenetics as I was also interested in developing visual skills. My geek side is entirely satisfied with all uprising genomic technologies.
Q4:
Through a large collaboration we collected 20 complex chromosomal rearrangements. Breakpoint characterization through genome sequencing revealed biased distribution throughout the genome revealing new elements around chromosome biology both for complex and simple rearrangements.
Nicolas will speak about “The enrichment of breakpoints in late-replicating chromatin provides novel insights into chromoanagenesis mechanisms” in the session PL2 What’s New? Highlight Session.
Q1:
17th February 1993, Vlissingen, the Netherlands
Q2:
PhD candidate
Q3:
I am ultimately interested in how the human brain is patterned during early development. Through genetic studies we can identify genes that are crucial for neurodevelopment, and use these as starting points for further delineating how the human brain develops.
Q4:
In our study, we identified SATB1 to be associated with a novel neurodevelopmental disorder. Different variant types in SATB1 have distinct functional effects and also lead to different clinical presentations. Therefore, SATB1 is a good example of a gene with a complex correlation between mutation-specific mechanisms and phenotypes, something that is now increasingly recognized in both new and already established neurodevelopmental disorder genes.
17th February 1993, Vlissingen, the Netherlands
Q2:
PhD candidate
Q3:
I am ultimately interested in how the human brain is patterned during early development. Through genetic studies we can identify genes that are crucial for neurodevelopment, and use these as starting points for further delineating how the human brain develops.
Q4:
In our study, we identified SATB1 to be associated with a novel neurodevelopmental disorder. Different variant types in SATB1 have distinct functional effects and also lead to different clinical presentations. Therefore, SATB1 is a good example of a gene with a complex correlation between mutation-specific mechanisms and phenotypes, something that is now increasingly recognized in both new and already established neurodevelopmental disorder genes.
Joery will speak about “Mutation-specific pathophysiological mechanisms in a new SATB1-associated neurodevelopmental disorderMutation-specific pathophysiological mechanisms in a new SATB1-associated neurodevelopmental disorder” in the session C02 Intellectual Disability.
Q1:
February 9, 1995, Rotterdam, the Netherlands
Q2:
I am a PhD-student at the Department of Clinical Genetics at Erasmus Medical Center in Rotterdam, the Netherlands. Currently our team is part of a consortium organizing the Dutch DNA-dialogue, a public engagement initiative to discuss human germline gene editing. Within this consortium I am investigating public opinions about human germline gene editing in the Netherlands and the impact of dialogue on those opinions.
Q3:
As I expect that recent developments will cause genetics to have an increasingly large impact on all of our lives, I am motivated to map out this impact in order for it to benefit the way we organize our healthcare. My background is in psychology as well as genetic associations with behavior and health. Connecting these fields, I am interested in the impact of genetics on people, both on an individual level and a societal level. However, this is not a one-way-street; people (should) impact the field of genetics as well.
Q4:
The research I will be presenting provides insight into the personal and dynamic understanding of human germline gene editing among members of the Dutch population. Subgroups of society for whom participation in public dialogue is not self-evident will be identified. This research is of interest to those working with gene editing, those who are interested in measuring public opinions and engagement, and anyone who is interested to hear what others think about human germline gene editing and why.
February 9, 1995, Rotterdam, the Netherlands
Q2:
I am a PhD-student at the Department of Clinical Genetics at Erasmus Medical Center in Rotterdam, the Netherlands. Currently our team is part of a consortium organizing the Dutch DNA-dialogue, a public engagement initiative to discuss human germline gene editing. Within this consortium I am investigating public opinions about human germline gene editing in the Netherlands and the impact of dialogue on those opinions.
Q3:
As I expect that recent developments will cause genetics to have an increasingly large impact on all of our lives, I am motivated to map out this impact in order for it to benefit the way we organize our healthcare. My background is in psychology as well as genetic associations with behavior and health. Connecting these fields, I am interested in the impact of genetics on people, both on an individual level and a societal level. However, this is not a one-way-street; people (should) impact the field of genetics as well.
Q4:
The research I will be presenting provides insight into the personal and dynamic understanding of human germline gene editing among members of the Dutch population. Subgroups of society for whom participation in public dialogue is not self-evident will be identified. This research is of interest to those working with gene editing, those who are interested in measuring public opinions and engagement, and anyone who is interested to hear what others think about human germline gene editing and why.
Diewertje will speak about “Public attitudes towards human germline gene editing: a baseline survey in the Netherlands” in the session C07 Impact of genomic medicine on public and patients.
Q1:
April 11, 1989, Miaoli City, Taiwan
Q2:
PhD student at Institute for Genome Statistics and Bioinformatics at University of Bonn
Q3:
With the gaining popularity of next-generation sequencing, the call for developing and applying computational models and novel algorithm to analyze genetic disorders has become urgent. Therefore, developing computational approaches to bioinformatics problems to save people who suffered from genetic diseases and thus increase the overall well-being is always the strongest motivation for my study.
Q4:
We developed GestaltMatch to overcome the limitation of the current next-generation phenotyping technique on rare Mendelian disorders. GestaltMatch can match patients with the same rare Mendelian disorder by given facial images. Moreover, it is able to explore new phenotypic series or discriminate between affected and non-affected subjects. Our new system is a natural extension to DeepGestalt and can help to develop new visual phenotype matching applications.
April 11, 1989, Miaoli City, Taiwan
Q2:
PhD student at Institute for Genome Statistics and Bioinformatics at University of Bonn
Q3:
With the gaining popularity of next-generation sequencing, the call for developing and applying computational models and novel algorithm to analyze genetic disorders has become urgent. Therefore, developing computational approaches to bioinformatics problems to save people who suffered from genetic diseases and thus increase the overall well-being is always the strongest motivation for my study.
Q4:
We developed GestaltMatch to overcome the limitation of the current next-generation phenotyping technique on rare Mendelian disorders. GestaltMatch can match patients with the same rare Mendelian disorder by given facial images. Moreover, it is able to explore new phenotypic series or discriminate between affected and non-affected subjects. Our new system is a natural extension to DeepGestalt and can help to develop new visual phenotype matching applications.
Tzung-Chien will speak about “GestaltMatch: breaking the limits of rare Mendelian disorder diagnosis by matching patients with next-generation phenotyping” in the session C03 Novel bioinformatic and machine-learning methods.
Q1:
25.05.1989 in Fulda (Germany)
Q2:
Postdoc at the Digital Health Center of the Berlin Institute of Health (BIH) / Charité Berlin
Q3:
I initially trained as a physicist with a focus on theoretical and biological physics, and became especially intrigued by large-scale behaviours or effects that emerge from the interaction of many individual entities. For instance, transcription of thousands of genes enables cells to fulfil vastly different functions, and the orchestrated actions of millions of cells result in distinct organs or tumors. My recent work has therefore focused on single-cell studies of tumor genetics.
Q4:
Pancreatic ductal adenocarcinoma (PDAC) is projected to be the second leading cause of cancer mortality by 2030, and remains poorly understood. Together with my colleagues, I have used patient-derived PDAC organoids to study PDAC transcriptomics at the single-cell level. Our work identified functional tumor cell states connected by a differentiation hierarchy also present in primary tumor biopsies. I also found that different transcriptional subtypes of PDAC can coexist within the same PDAC sample. These results support PDAC organoids as a clinically relevant model, and will hopefully accelerate translational efforts for this challenging disease.
25.05.1989 in Fulda (Germany)
Q2:
Postdoc at the Digital Health Center of the Berlin Institute of Health (BIH) / Charité Berlin
Q3:
I initially trained as a physicist with a focus on theoretical and biological physics, and became especially intrigued by large-scale behaviours or effects that emerge from the interaction of many individual entities. For instance, transcription of thousands of genes enables cells to fulfil vastly different functions, and the orchestrated actions of millions of cells result in distinct organs or tumors. My recent work has therefore focused on single-cell studies of tumor genetics.
Q4:
Pancreatic ductal adenocarcinoma (PDAC) is projected to be the second leading cause of cancer mortality by 2030, and remains poorly understood. Together with my colleagues, I have used patient-derived PDAC organoids to study PDAC transcriptomics at the single-cell level. Our work identified functional tumor cell states connected by a differentiation hierarchy also present in primary tumor biopsies. I also found that different transcriptional subtypes of PDAC can coexist within the same PDAC sample. These results support PDAC organoids as a clinically relevant model, and will hopefully accelerate translational efforts for this challenging disease.
Teresa will speak about “Patient-derived PDAC organoids recapitulate tumor cell state heterogeneity and functional hierarchy in vitro” in the session C04 Basic research in cancer.
Q1:
19-02-1988, Utrecht, The Netherlands
Q2:
PhD student
Q3:
I am interested in understanding the genetic causes of rare pediatric onset disorders. I believe that furthering our understanding of the genetic underlying of rare disorders will result in improvement of diagnosis, prognosis and treatment of affected children.
Q4:
We established the largest cohort of a novel congenital cardiac valve disorder caused by bi-allelic mutations in PLD1. We provide evidence for a novel founder mutation among the Ashkenazi Jews. In a functional assay, we showed that the identified variants result in loss of enzymatic function of PLD1. Finally, in a model system, we showed that PLD1 inhibition decreased epithelial-mesenchymal transformation (EMT), a pivotal early step in valvulogenesis.
19-02-1988, Utrecht, The Netherlands
Q2:
PhD student
Q3:
I am interested in understanding the genetic causes of rare pediatric onset disorders. I believe that furthering our understanding of the genetic underlying of rare disorders will result in improvement of diagnosis, prognosis and treatment of affected children.
Q4:
We established the largest cohort of a novel congenital cardiac valve disorder caused by bi-allelic mutations in PLD1. We provide evidence for a novel founder mutation among the Ashkenazi Jews. In a functional assay, we showed that the identified variants result in loss of enzymatic function of PLD1. Finally, in a model system, we showed that PLD1 inhibition decreased epithelial-mesenchymal transformation (EMT), a pivotal early step in valvulogenesis.
Najim will speak about “Bi-allelic loss-of-function mutations in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy
” in the session C05 Elucidating the function of cardiac genes .
Q1:
29/11/1979, Terlizzi (Bari); Italy.
Q2:
I am PhD student at Department of Molecular Medicine and Medical Biotechnology, University of Naples “Federico II”.
Q3: I graduated in Biology and I’ve always been fascinated by genetics and molecular biology. To be more precise, starting from my degree internship, going through my second level master and up to now I’m working as a bioinformatician and focusing on cancer genetics and genomics. In the main, I think that bioinformatics, nowadays, is one of the most important means to study the genetic basis of human diseases.
Q4:
I am trying to study somatic mutations in noncoding DNA. In this work I used an alternative approach to interpret the functional significance of noncoding somatic mutations in promoting tumorigenesis. Briefly, my approach is, first, to locate somatic mutations in regulatory elements specifically active in tumor cells (by exploiting epigenomics information). Then, to identify transcription factors whose binding sites (TFBS) are enriched or depleted in mutations. Finally, I focus on (i) the biological processes in which those TFs are involved in; (ii) the expression levels of those TFs in tumor cohorts. I found that the pathogenicity of mutations was significantly higher in TFBS of regulatory elements specifically active in tumor cells, as compared to the other regulatory elements. Moreover, over-represented TFs were mainly involved in cell cycle phase transitions whereas under-represented TFs primarily regulated cell differentiation. Furthermore, a gene expression signature based on over-represented TFs correlated with poor survival and unfavourable prognostic markers. In my opinion, the key point, here, is that I observed almost fully overlapping results when I analysed somatic mutations from two different tumors (Neuroblastoma and Wilms tumor) with embryonic onset. Nevertheless, I realize that further analysis, on different types of tumors, are needed to assess the reliability of my approach.
29/11/1979, Terlizzi (Bari); Italy.
Q2:
I am PhD student at Department of Molecular Medicine and Medical Biotechnology, University of Naples “Federico II”.
Q3: I graduated in Biology and I’ve always been fascinated by genetics and molecular biology. To be more precise, starting from my degree internship, going through my second level master and up to now I’m working as a bioinformatician and focusing on cancer genetics and genomics. In the main, I think that bioinformatics, nowadays, is one of the most important means to study the genetic basis of human diseases.
Q4:
I am trying to study somatic mutations in noncoding DNA. In this work I used an alternative approach to interpret the functional significance of noncoding somatic mutations in promoting tumorigenesis. Briefly, my approach is, first, to locate somatic mutations in regulatory elements specifically active in tumor cells (by exploiting epigenomics information). Then, to identify transcription factors whose binding sites (TFBS) are enriched or depleted in mutations. Finally, I focus on (i) the biological processes in which those TFs are involved in; (ii) the expression levels of those TFs in tumor cohorts. I found that the pathogenicity of mutations was significantly higher in TFBS of regulatory elements specifically active in tumor cells, as compared to the other regulatory elements. Moreover, over-represented TFs were mainly involved in cell cycle phase transitions whereas under-represented TFs primarily regulated cell differentiation. Furthermore, a gene expression signature based on over-represented TFs correlated with poor survival and unfavourable prognostic markers. In my opinion, the key point, here, is that I observed almost fully overlapping results when I analysed somatic mutations from two different tumors (Neuroblastoma and Wilms tumor) with embryonic onset. Nevertheless, I realize that further analysis, on different types of tumors, are needed to assess the reliability of my approach.
Vito will speak about “Oncogenic transcription factors are over-represented in mutated active DNA binding sites in neuroblastoma and Wilms tumor” in the session C04 Basic research in cancer .
Q1:
03/11/1988 Ferrara
Q2:
I am currently a post-doctoral researcher at the University of Lausanne
Q3:
I have been always fascinated by the complexity of the human genome and how a genetic change causes a human disease. I am interested in understanding the molecular mechanisms implicated in a disease, as it will help in the development of targeted treatment.
Q4:
We report a case series of six individuals with a severe neurodevelopmental disorder carrying de novo frameshift variants in NOVA2 – a neuronal splicing factor – that lead to truncated proteins sharing a novel C-terminal part. We investigated the molecular consequences of these variants and highlighted the importance of splicing regulation during brain development.
03/11/1988 Ferrara
Q2:
I am currently a post-doctoral researcher at the University of Lausanne
Q3:
I have been always fascinated by the complexity of the human genome and how a genetic change causes a human disease. I am interested in understanding the molecular mechanisms implicated in a disease, as it will help in the development of targeted treatment.
Q4:
We report a case series of six individuals with a severe neurodevelopmental disorder carrying de novo frameshift variants in NOVA2 – a neuronal splicing factor – that lead to truncated proteins sharing a novel C-terminal part. We investigated the molecular consequences of these variants and highlighted the importance of splicing regulation during brain development.
Franczesca will speak about “De novo frameshift variants in the neuronal splicing factor NOVA2 result in a common C-terminal part and cause a severe form of neurodevelopmental disorder” in the session C02 Intellectual Disability.
Q1:
April 7, 1988 Tartu, Estonia
Q2:
Postdoctoral Fellow at Yale School of Medicine, New Haven, CT, USA
Q3:
First I developed an interest in genetics as a medical specialty during medical school. I was fascinated by new emerging technologies like exome sequencing and the possibility to diagnose patients on a molecular level and not just call everything “idiopathic” or “of unknown cause”. Later I have become more interested in research as well, and mostly in the big data analysis that comes with clinical genetics.
Q4:
I think that we are still in the early phase of clinical genetics, as more than half of the patients are not receiving their molecular diagnoses in the clinical setting. I believe that a lot is hidden in the non-coding space, and I tried to take a deeper look into the near-coding or more precisely untranslated regions. The goal is still the same – each patient deserves a correct diagnosis even more so now in the time of new personalized therapies.
April 7, 1988 Tartu, Estonia
Q2:
Postdoctoral Fellow at Yale School of Medicine, New Haven, CT, USA
Q3:
First I developed an interest in genetics as a medical specialty during medical school. I was fascinated by new emerging technologies like exome sequencing and the possibility to diagnose patients on a molecular level and not just call everything “idiopathic” or “of unknown cause”. Later I have become more interested in research as well, and mostly in the big data analysis that comes with clinical genetics.
Q4:
I think that we are still in the early phase of clinical genetics, as more than half of the patients are not receiving their molecular diagnoses in the clinical setting. I believe that a lot is hidden in the non-coding space, and I tried to take a deeper look into the near-coding or more precisely untranslated regions. The goal is still the same – each patient deserves a correct diagnosis even more so now in the time of new personalized therapies.
Sander will speak about “Untranslated region (UTR) variant analysis across 71,702 genomes to build a framework for variant interpretation” in the session C03 Novel bioinformatic and machine-learning methods.
Q1:
23-12-1994, Riga, Latvia
Q2:
PhD student at the Radboudumc, The Netherlands
Q3:
Genetics is fascinating for me because we can trace patients’ symptoms to a change in a single molecule. It allows us to analyse a chain of events from a change in a molecule, to a cell, to a person, which can result in practical answers for patients and their families.
Q4:
I will present the results of our study on the effect of truncating variants position in the SRCAP gene on a phenotype. We describe clinical and molecular findings of three groups of patients with the variants located in three different loci of the SRCAP gene and propose possible mechanisms for the different groups. This study shows the application of DNA methylation analysis for discriminating different effects of different variants in one gene.
23-12-1994, Riga, Latvia
Q2:
PhD student at the Radboudumc, The Netherlands
Q3:
Genetics is fascinating for me because we can trace patients’ symptoms to a change in a single molecule. It allows us to analyse a chain of events from a change in a molecule, to a cell, to a person, which can result in practical answers for patients and their families.
Q4:
I will present the results of our study on the effect of truncating variants position in the SRCAP gene on a phenotype. We describe clinical and molecular findings of three groups of patients with the variants located in three different loci of the SRCAP gene and propose possible mechanisms for the different groups. This study shows the application of DNA methylation analysis for discriminating different effects of different variants in one gene.
Dmitrijs will speak about “Identity-by-descent detection across 487,409 British samples reveals fine-scale population structure, evolutionary history, and trait associations” in the session C02 Intellectual Disability.
Q1:
29/03/1995, St Denis (France) Q2:
PhD candidate
Q3:
I am very interested in statistical genetics and its application to solve public health issues, which is a very rewarding and interdisciplinary research field.
Q4:
The research I will be presenting at the conference has a very broad spectrum of applications, from studying the recent evolutionary history of humans, to detecting genomic variation associated to heritable traits and diseases.
29/03/1995, St Denis (France) Q2:
PhD candidate
Q3:
I am very interested in statistical genetics and its application to solve public health issues, which is a very rewarding and interdisciplinary research field.
Q4:
The research I will be presenting at the conference has a very broad spectrum of applications, from studying the recent evolutionary history of humans, to detecting genomic variation associated to heritable traits and diseases.
Juba will speak about “Identity-by-descent detection across 487,409 British samples reveals fine-scale population structure, evolutionary history, and trait associations” in the session PL2 What’s New? Highlight Session.
Q1:
1992 January 18th, Vilnius, Lithuania
Q2:
Currently I am a researcher at Radboud University Medical Center, Nijmegen, Netherlands. In June I am going to start working as a medical doctor in the department of hematology in Vilnius University Hospital Santaros Clinics, Lithuania.
Q3:
I wanted to combine clinical and research work. Genetics has good options for that, as a lot of research work can be directly transferred to the clinic. For example, novel diagnostic approaches provide diagnostic answers to patients that might have been searching for them for years. Additionally, I’m motivated by the fact you can apply data analysis / bioinformatics skills to improve your own workflow.
Q4:
So far, most success stories of AI in medicine came from specialties that deal with imaging data, namely, radiology and pathology. The most exciting part for me personally was converting genomic information into an image which meant that I could apply techniques normally used in deep learning for radiology.
1992 January 18th, Vilnius, Lithuania
Q2:
Currently I am a researcher at Radboud University Medical Center, Nijmegen, Netherlands. In June I am going to start working as a medical doctor in the department of hematology in Vilnius University Hospital Santaros Clinics, Lithuania.
Q3:
I wanted to combine clinical and research work. Genetics has good options for that, as a lot of research work can be directly transferred to the clinic. For example, novel diagnostic approaches provide diagnostic answers to patients that might have been searching for them for years. Additionally, I’m motivated by the fact you can apply data analysis / bioinformatics skills to improve your own workflow.
Q4:
So far, most success stories of AI in medicine came from specialties that deal with imaging data, namely, radiology and pathology. The most exciting part for me personally was converting genomic information into an image which meant that I could apply techniques normally used in deep learning for radiology.
Karolis will speak about “Improved de novo mutation detection through deep learning” in the session C03 Novel bioinformatic and machine-learning methods .
Q1:
11-10-1987, Osijek (Croatia)
Q2:
PhD Candidate
Q3:
We live in an exciting time when it comes to genetics. The genetics field as we know it, will not be the same 10 years from now, as it is not the same today compared to a decade ago. There is a lot we have already learned, but there is even more we still need to explore. It is exciting to be a part of that.
Q4:
Unravelling the genetics of congenital heart disease (CHD) remains challenging. Our research is the results of collaborations between the clinicians that see these patients, geneticists and biomedical scientists, and shows how important integrating different types of data is in identifying new causal genes in CHD.
11-10-1987, Osijek (Croatia)
Q2:
PhD Candidate
Q3:
We live in an exciting time when it comes to genetics. The genetics field as we know it, will not be the same 10 years from now, as it is not the same today compared to a decade ago. There is a lot we have already learned, but there is even more we still need to explore. It is exciting to be a part of that.
Q4:
Unravelling the genetics of congenital heart disease (CHD) remains challenging. Our research is the results of collaborations between the clinicians that see these patients, geneticists and biomedical scientists, and shows how important integrating different types of data is in identifying new causal genes in CHD.
Doris will speak about “Mutations in KDR, encoding for vascular endothelial growth factor receptor 2, contribute to Tetralogy of Fallot” in the session C05 Elucidating the function of cardiac genes.
Q2:
Ethical, Legal and Social Adviser in Public Health Genomics
Q3:
I always loved learning about genetics and was fascinated by the amazing potential of this knowledge for medicine and healthcare. However, with my legal background and interest in ethics I am also very cautious about running headlong into embracing every possible technology without careful review. Balancing the appreciation for genetic technology’s potential and proceeding with caution and consideration of the implications for public health attracted me and my current role allows me to explore, investigate and write about these issues.
Q4:
Direct-to-consumer testing has become so popular, and we know that the public are eager to access genetic risk results. However, there is still so much confusion around what the results mean, and many companies whose results are just incorrect, that invariably people must seek out assistance from healthcare professionals to assist with interpretation and validation of results. We don’t know, however, how much of a burden this is placing on publicly-funded, already resource-stretched genetics services. We did a preliminary investigation of DTC genetic test-related referrals to understand how many such referrals are being received by Australian public genetics services and what outcomes follow them. We found a considerable variance in terms of how many referrals were received by different services around Australia, and what policies or procedures (if any) they had in place regarding how to manage DTC referrals.
Ethical, Legal and Social Adviser in Public Health Genomics
Q3:
I always loved learning about genetics and was fascinated by the amazing potential of this knowledge for medicine and healthcare. However, with my legal background and interest in ethics I am also very cautious about running headlong into embracing every possible technology without careful review. Balancing the appreciation for genetic technology’s potential and proceeding with caution and consideration of the implications for public health attracted me and my current role allows me to explore, investigate and write about these issues.
Q4:
Direct-to-consumer testing has become so popular, and we know that the public are eager to access genetic risk results. However, there is still so much confusion around what the results mean, and many companies whose results are just incorrect, that invariably people must seek out assistance from healthcare professionals to assist with interpretation and validation of results. We don’t know, however, how much of a burden this is placing on publicly-funded, already resource-stretched genetics services. We did a preliminary investigation of DTC genetic test-related referrals to understand how many such referrals are being received by Australian public genetics services and what outcomes follow them. We found a considerable variance in terms of how many referrals were received by different services around Australia, and what policies or procedures (if any) they had in place regarding how to manage DTC referrals.
Jane will speak about “Measuring the burden of direct-to-consumer genetic testing on clinical genetics services” in the session C07 Impact of genomic medicine on public and patients .
Q1:
11-10-1993, Zuidhorn (the Netherlands)
Q2:
PhD candidate
Q3:
I am a medical psychologist, and I think that from a psychosocial perspective clinical genetics is a very interesting field. Often healthy patients are confronted with potential increased risk on developing a disease, or having a child with a certain disease, in which risk perception and handling uncertainty play an important role. Furthermore, the information is not only relevant for patients themselves, but also for their family members. This familial character can have a huge impact on psychosocial and family functioning. In my bachelor, I did an research internship in clinical genetics, and after that, a PhD in genetics felt as a logical step.
Q4:
I will present the preliminary results of a trial that we conducted on informing family members at risk of inherited cardiac diseases in the Netherlands. In this trial, a so-called ‘tailored approach’ (i.e., probands are asked whether they prefer to inform family members themselves and whether there are relatives they prefer to be informed by the genetic counsellor, with a family letter being directly sent to all family members after one month with consent of the proband) is compared to the currently used, proband-mediated approach. I think the results of this study are interesting, because previous research indicates that only about half of family members at risk currently attends genetic counselling. Clinical geneticists/genetic counsellors are thinking about how to increase this uptake, especially for diseases where preventive and/or treatment options are available. Questions that are being asked in the literature regarding this issue are for example (1) Who has to responsibility to inform?; (2) Is there a duty to warn/inform?; (3) What is the psychosocial impact of direct contact approaches? Etc. Legal cases on informing family members at risk went to court both in the Netherlands and the United Kingdom in the past years, and new guidelines on informing at-risk family members have been published in France and the Netherlands. Furthermore, research conducted in patients with an inherited cardiac disease and their families is limited. Therefore, I think that the results of this trial will provide relevant insights for current policies.
11-10-1993, Zuidhorn (the Netherlands)
Q2:
PhD candidate
Q3:
I am a medical psychologist, and I think that from a psychosocial perspective clinical genetics is a very interesting field. Often healthy patients are confronted with potential increased risk on developing a disease, or having a child with a certain disease, in which risk perception and handling uncertainty play an important role. Furthermore, the information is not only relevant for patients themselves, but also for their family members. This familial character can have a huge impact on psychosocial and family functioning. In my bachelor, I did an research internship in clinical genetics, and after that, a PhD in genetics felt as a logical step.
Q4:
I will present the preliminary results of a trial that we conducted on informing family members at risk of inherited cardiac diseases in the Netherlands. In this trial, a so-called ‘tailored approach’ (i.e., probands are asked whether they prefer to inform family members themselves and whether there are relatives they prefer to be informed by the genetic counsellor, with a family letter being directly sent to all family members after one month with consent of the proband) is compared to the currently used, proband-mediated approach. I think the results of this study are interesting, because previous research indicates that only about half of family members at risk currently attends genetic counselling. Clinical geneticists/genetic counsellors are thinking about how to increase this uptake, especially for diseases where preventive and/or treatment options are available. Questions that are being asked in the literature regarding this issue are for example (1) Who has to responsibility to inform?; (2) Is there a duty to warn/inform?; (3) What is the psychosocial impact of direct contact approaches? Etc. Legal cases on informing family members at risk went to court both in the Netherlands and the United Kingdom in the past years, and new guidelines on informing at-risk family members have been published in France and the Netherlands. Furthermore, research conducted in patients with an inherited cardiac disease and their families is limited. Therefore, I think that the results of this trial will provide relevant insights for current policies.
Lieke will speak about “A tailored approach towards informing relatives at risk of inherited cardiac diseases: preliminary results of a randomized controlled trial” in the session C07 Impact of genomic medicine on public and patients.
Q1:
May 3 1988, Oss, Noord-Brabant, The Netherlands
Q2:
PhD candidate in human genetics and structural bioinformatics at the Radboudumc in Nijmegen (The Netherlands)
Q3:
What intrigues me so much about the field of human genetics is the applicability of computer science to uncover scientific findings that would otherwise be so hard to observe. These findings directly affect the work of clinicians and indirectly the patients, which is a further heartwarming reward.
Q4:
The enormous amount of genetic data that has been accumulated in the last decades contains a wealth of information. One of the key challenges today is finding ways to interpret these data and generally make sense of it all. I have previously shown that homologous relationships between protein domains can be used to aggregate genetic variation and subsequently used to interpret variants of unknown significance.
In the research I will be presenting, we apply this further to identify critical hotspots of de novo mutations (DNMs), from a large cohort of patients with developmental disorders, to suggest novel disease gene candidates.
May 3 1988, Oss, Noord-Brabant, The Netherlands
Q2:
PhD candidate in human genetics and structural bioinformatics at the Radboudumc in Nijmegen (The Netherlands)
Q3:
What intrigues me so much about the field of human genetics is the applicability of computer science to uncover scientific findings that would otherwise be so hard to observe. These findings directly affect the work of clinicians and indirectly the patients, which is a further heartwarming reward.
Q4:
The enormous amount of genetic data that has been accumulated in the last decades contains a wealth of information. One of the key challenges today is finding ways to interpret these data and generally make sense of it all. I have previously shown that homologous relationships between protein domains can be used to aggregate genetic variation and subsequently used to interpret variants of unknown significance.
In the research I will be presenting, we apply this further to identify critical hotspots of de novo mutations (DNMs), from a large cohort of patients with developmental disorders, to suggest novel disease gene candidates.
Laurens will speak about “Hotspot detection in homologous protein domains using de novo mutations from 31,058 patients identify candidate developmental disorder genes” in the session C03 Novel bioinformatic and machine-learning methods.
Q1:
11/04/1991 Stolberg, Germany
Q2:
I work as a clinician in the Institute of Human Genetics and in the Centre of Reproductive Medicin and Andrology of the University Hospital in Münster, Germany.
Q3:
I love science! And which field in medicin could be more exciting than the fast evolving field of human genetics, where so many things about life and humans are still to discover?
Q4:
Male infertility is a poorly studied research area, where very little is known yet and there are still many things to discover. As reproductive mechanisms are highly conserved among species, understanding how human male meiosis works, also means understanding how sexual reproduction in general works.
11/04/1991 Stolberg, Germany
Q2:
I work as a clinician in the Institute of Human Genetics and in the Centre of Reproductive Medicin and Andrology of the University Hospital in Münster, Germany.
Q3:
I love science! And which field in medicin could be more exciting than the fast evolving field of human genetics, where so many things about life and humans are still to discover?
Q4:
Male infertility is a poorly studied research area, where very little is known yet and there are still many things to discover. As reproductive mechanisms are highly conserved among species, understanding how human male meiosis works, also means understanding how sexual reproduction in general works.
Margot will speak about “Identification of novel causes for male infertility: loss-of-function variants in MSH4 and MSH5” in the session C01 From carrier screening to infertility and fetal diagnostics.
These authors will present on Sunday, June 7, 2020
Q1:
Date: 1981-08-23, City of birth: Stockholm, Sweden
Q2:
Post doc at the Department of Biomedical Science at Copenhagen University
Q3:
I was drawn to the field of genetics for my interest in biology and technology. In genetics I get an opportunity to use advanced technology and data analysis in order to solve biological problems.
Q4:
This research is interesting because at a basic science level we are studying the genetics of atrial function with CMR images, which has not been done before. Yet the results may have important clinical implications for detecting patients at risk for cardioembolic stroke. Stroke is a common complication of atrial fibrillation (AF). One in three patients with ischemic strokes have been found to have either symptomatic or asymptomatic AF. Many of these strokes could have been prevented with oral anticoagulants, which have been shown to reduce stroke or systemic thromboembolism by 64 % and all-cause mortality by 26 %. For one in four strokes related to AF, stroke is the first manifestation of previously unknown AF.
By studying the genetics of atrial function we aim to improve the ability to detect AF and the formation of thrombosis. A potential a major reduction in stroke burden could be achieved by improving these measures, due to the effectiveness of OAC.
Date: 1981-08-23, City of birth: Stockholm, Sweden
Q2:
Post doc at the Department of Biomedical Science at Copenhagen University
Q3:
I was drawn to the field of genetics for my interest in biology and technology. In genetics I get an opportunity to use advanced technology and data analysis in order to solve biological problems.
Q4:
This research is interesting because at a basic science level we are studying the genetics of atrial function with CMR images, which has not been done before. Yet the results may have important clinical implications for detecting patients at risk for cardioembolic stroke. Stroke is a common complication of atrial fibrillation (AF). One in three patients with ischemic strokes have been found to have either symptomatic or asymptomatic AF. Many of these strokes could have been prevented with oral anticoagulants, which have been shown to reduce stroke or systemic thromboembolism by 64 % and all-cause mortality by 26 %. For one in four strokes related to AF, stroke is the first manifestation of previously unknown AF.
By studying the genetics of atrial function we aim to improve the ability to detect AF and the formation of thrombosis. A potential a major reduction in stroke burden could be achieved by improving these measures, due to the effectiveness of OAC.
Gustav will speak about “Genome wide association study based on cardiac magnetic resonance imaging in 23,634 individuals identifies five new loci associated with left atrial enlargement” in the session C10 Rare and common variants in personilized medicine.
Q1:
August 1988, Christchurch, New Zealand
Q2:
Postdoctoral Fellow
Q3:
I was hooked when a teacher showed us a picture of a human hand with six fingers and asked, “What does this gene do?” and suggested: “This is not a gene for six fingers. It’s a broken gene that normally stops fingers growing.” I think natural genetic variation is the largest, most exciting scientific experiment ever observed.
Q4:
Most common conditions – from heart disease to epilepsy – can, in a subset of cases, be driven by a single DNA change. These powerful, rare variants tell us a lot about common disease mechanisms and treatments. However, no such variants have been found in asthma. We used the largest ever collection of asthma patient exomes to try to find these major-effect variants. To our surprise, exomes also teach us lots about known variants with ‘modest’ effects, such as in the gene FLG, and we found a signal for ultra-rare variants where some might not have expected it.
August 1988, Christchurch, New Zealand
Q2:
Postdoctoral Fellow
Q3:
I was hooked when a teacher showed us a picture of a human hand with six fingers and asked, “What does this gene do?” and suggested: “This is not a gene for six fingers. It’s a broken gene that normally stops fingers growing.” I think natural genetic variation is the largest, most exciting scientific experiment ever observed.
Q4:
Most common conditions – from heart disease to epilepsy – can, in a subset of cases, be driven by a single DNA change. These powerful, rare variants tell us a lot about common disease mechanisms and treatments. However, no such variants have been found in asthma. We used the largest ever collection of asthma patient exomes to try to find these major-effect variants. To our surprise, exomes also teach us lots about known variants with ‘modest’ effects, such as in the gene FLG, and we found a signal for ultra-rare variants where some might not have expected it.
Sophia will speak about “A comprehensive exome study of the genetic architecture of asthma reveals a putative novel patient subgroup defined by filaggrin truncating variants” in the session C14 Internal Organs.
Q1:
Brussels, 02 February 1989
Q2:
Postdoctoral fellow, McGill University / Lady Davis Institute
Q3:
I discovered genetics in high school with microsatellites. My path then led me from DNA to RNA, from coding variants to genomic repeats expression, and from medicine to bioinformatics. It shows the extraordinary diversity of the field, combining translational research, basic biology, algorithmics, and exciting socio-ethical questions. And I have always loved a multidisciplinary challenge.
Q4:
My project demonstrates a higher expression of repeat genomic elements in several high-grade gliomas. On the technical side, I established a pipeline for their detection in single-cell RNA sequencing data, which benefits other fields, such as development. On the translational side, understanding why not all tumours show the same behaviour will allow designing better approaches to elicit viral mimicry.
Brussels, 02 February 1989
Q2:
Postdoctoral fellow, McGill University / Lady Davis Institute
Q3:
I discovered genetics in high school with microsatellites. My path then led me from DNA to RNA, from coding variants to genomic repeats expression, and from medicine to bioinformatics. It shows the extraordinary diversity of the field, combining translational research, basic biology, algorithmics, and exciting socio-ethical questions. And I have always loved a multidisciplinary challenge.
Q4:
My project demonstrates a higher expression of repeat genomic elements in several high-grade gliomas. On the technical side, I established a pipeline for their detection in single-cell RNA sequencing data, which benefits other fields, such as development. On the translational side, understanding why not all tumours show the same behaviour will allow designing better approaches to elicit viral mimicry.
Max will speak about “When the silent genome gets loud: transcription of repeated genomic elements at the single-cell resolution in K27M-mutated high-grade gliomas” in the session C13 3D Genome Architecture.
Q2:
MD-PhD Candidate
Q3:
I find genetics to be the most fascinating field in biology, and I believe that some of the most significant advances in medicine that will improve the lives of millions will be made through breakthroughs genetics.
Q4:
We studied a family affected by a very common metabolic disease called Gout. Through genetic analysis we identified a mutation in LDHD, a gene encoding an enzyme that was not previously implicated in the disease. Through metabolomic analyses on samples obtained from the studied family and on samples obtained from genetically engineered (CRISPR-Cas9) knock-out mice, we discovered a novel mechanism underlying this common disease, with potential implications on disease diagnosis as well as treatment.
MD-PhD Candidate
Q3:
I find genetics to be the most fascinating field in biology, and I believe that some of the most significant advances in medicine that will improve the lives of millions will be made through breakthroughs genetics.
Q4:
We studied a family affected by a very common metabolic disease called Gout. Through genetic analysis we identified a mutation in LDHD, a gene encoding an enzyme that was not previously implicated in the disease. Through metabolomic analyses on samples obtained from the studied family and on samples obtained from genetically engineered (CRISPR-Cas9) knock-out mice, we discovered a novel mechanism underlying this common disease, with potential implications on disease diagnosis as well as treatment.
Max will speak about “Hyperuricemia and gout caused by missense mutation in D-lactate dehydrogenase, revealing novel enzymatic activity” in the session C09 Metabolic and Mitochondrial Disorders.
Q1:
15/09/1993, London, UK
Q2:
Final year PhD student in computational biology at the University of Sheffield
Q3:
Sequencing is rapidly getting cheaper, raising hopes that large medical advances can be made from the abundance of genomic data now available, but there are not enough geneticists to analyse these data. I wanted to decipher how genomic information could be used to understand the attributes of living systems, to treat diseases in a more personalised way than previously possible.
Q4:
I am presenting a new quality control methodology I have developed to improve the accuracy of calling variants from genome sequencing data. Large numbers of scientists and clinicians rely on accurate sequencing for their research or for diagnosing diseases, so my methods to improve this could have an impact across many areas of science and medicine.
15/09/1993, London, UK
Q2:
Final year PhD student in computational biology at the University of Sheffield
Q3:
Sequencing is rapidly getting cheaper, raising hopes that large medical advances can be made from the abundance of genomic data now available, but there are not enough geneticists to analyse these data. I wanted to decipher how genomic information could be used to understand the attributes of living systems, to treat diseases in a more personalised way than previously possible.
Q4:
I am presenting a new quality control methodology I have developed to improve the accuracy of calling variants from genome sequencing data. Large numbers of scientists and clinicians rely on accurate sequencing for their research or for diagnosing diseases, so my methods to improve this could have an impact across many areas of science and medicine.
Timothy will speak about “Genomic loci susceptible to systematic sequencing bias in clinical whole genomes” in the session C08 Impact of diagnostics improvements in healthcare.
Q1:
06.11.1992 in Gijón, Asturias (Spain).
Q2:
I am a PhD student at Expression Regulation in Cancer group headed by Carla Oliveira at IPATIMUP, Porto (Portugal). I am working on the genetically unsolved patients with hereditary diffuse gastric cancer. In cooperation with the University of Cambridge and the Radboud University of Nijmegen, within the Solve-RD consortium, we expect to find the missing heritability in this deadly syndrome.
Q3:
The first disciplines related to genetics that I was able to attend, led me to understand that the only way to prevent genetic disorders arise from the knowledge on the inherited cause. Since then, this idea motivated me to develop my career on genetic research.
Thanks to research and practice in genetics, it is now possible to prevent many pathologies, with a very high impact in patients’ diagnosis and survival. For all these reasons, I find the scientific research and concretely the project that I am developing in my PhD, so exciting and promising.
Q4:
In this project, we explored the phenotypic landscape on a European-cohort of CDH1 mutation-carriers, to demonstrate the value of genetic testing driven by phenotype and clinical criteria. We were able to compile, in the same database, most of the families carrying CDH1 mutations, either identified by members of the European Reference Network on hereditary tumour risk syndromes -GENTURIS- or other national partners interested in CDH1-related diseases. Through genotype-phenotype analysis in P/LP variant carrier-families, we studied the CDH1-associated spectrum and age-of-disease onset to optimize clinical management. This database will be available at the ERN-GENTURIS website and it is expected to have immediate impact for HDGC patients management.
06.11.1992 in Gijón, Asturias (Spain).
Q2:
I am a PhD student at Expression Regulation in Cancer group headed by Carla Oliveira at IPATIMUP, Porto (Portugal). I am working on the genetically unsolved patients with hereditary diffuse gastric cancer. In cooperation with the University of Cambridge and the Radboud University of Nijmegen, within the Solve-RD consortium, we expect to find the missing heritability in this deadly syndrome.
Q3:
The first disciplines related to genetics that I was able to attend, led me to understand that the only way to prevent genetic disorders arise from the knowledge on the inherited cause. Since then, this idea motivated me to develop my career on genetic research.
Thanks to research and practice in genetics, it is now possible to prevent many pathologies, with a very high impact in patients’ diagnosis and survival. For all these reasons, I find the scientific research and concretely the project that I am developing in my PhD, so exciting and promising.
Q4:
In this project, we explored the phenotypic landscape on a European-cohort of CDH1 mutation-carriers, to demonstrate the value of genetic testing driven by phenotype and clinical criteria. We were able to compile, in the same database, most of the families carrying CDH1 mutations, either identified by members of the European Reference Network on hereditary tumour risk syndromes -GENTURIS- or other national partners interested in CDH1-related diseases. Through genotype-phenotype analysis in P/LP variant carrier-families, we studied the CDH1-associated spectrum and age-of-disease onset to optimize clinical management. This database will be available at the ERN-GENTURIS website and it is expected to have immediate impact for HDGC patients management.
José will speak about “The first genotype-phenotype study on European carriers of CDH1 germline mutations” in the session C10 Rare and common variants in personilized medicine.
Q1:
April 27 1989, Paris
Q2:
PhD student in IGBMC, Illkirch, France
Q3:
I am fascinated by the complexity of the genome. My main interest is to understand how mutations can be drivers of either disease or evolution.
Q4:
CHD8 is a major candidate gene for Autism Spectrum Disorders (ASD). However, little is known about its role in the etiology of the gastrointestinal disorders associated with ASD. We investigated this role using the zebrafish model and showed that the lack of chd8 led to a decrease of the number of enteric neurons, caused by a reduction of the migration, proliferation and differenciation of their progenitors, the enteric neural crest cells.
April 27 1989, Paris
Q2:
PhD student in IGBMC, Illkirch, France
Q3:
I am fascinated by the complexity of the genome. My main interest is to understand how mutations can be drivers of either disease or evolution.
Q4:
CHD8 is a major candidate gene for Autism Spectrum Disorders (ASD). However, little is known about its role in the etiology of the gastrointestinal disorders associated with ASD. We investigated this role using the zebrafish model and showed that the lack of chd8 led to a decrease of the number of enteric neurons, caused by a reduction of the migration, proliferation and differenciation of their progenitors, the enteric neural crest cells.
Gaëlle will speak about “Autism Comorbidities: Role of CHD8 during the Development of the Enteric Nervous System” in the session C12 Neuropsychiatry.
Q1:
April 24th 1991, Wisch, The Netherlands
Q2:
I am a bioinformatics PhD student at the Radboud University Medical Center, working in the fields of Human Genetics and Metabolomics.
Q3:
Because so many things in life are interesting, I found it quite difficult to choose the path of my education. But I realized that could be a strength for interdisciplinary work, as I love to bring different worlds together. So when I was offered a PhD position about integrating metabolomics and genomics data, that was a perfect match for me.
Q4:
More than a thousand different inborn errors of metabolism (IEM) have been identified, yet there are still many IEM patients that we cannot properly diagnose. We hope that untargeted metabolic profiling will help to shed a light on novel pathogenic variants and can help to unravel disease mechanisms for future development of treatments.
April 24th 1991, Wisch, The Netherlands
Q2:
I am a bioinformatics PhD student at the Radboud University Medical Center, working in the fields of Human Genetics and Metabolomics.
Q3:
Because so many things in life are interesting, I found it quite difficult to choose the path of my education. But I realized that could be a strength for interdisciplinary work, as I love to bring different worlds together. So when I was offered a PhD position about integrating metabolomics and genomics data, that was a perfect match for me.
Q4:
More than a thousand different inborn errors of metabolism (IEM) have been identified, yet there are still many IEM patients that we cannot properly diagnose. We hope that untargeted metabolic profiling will help to shed a light on novel pathogenic variants and can help to unravel disease mechanisms for future development of treatments.
Brechtje will speak about “Metabolite set enrichment improves biomarker identification and detection in untargeted metabolic profiling (UMP) data for patients with inborn errors of metabolism” in the session C09 Metabolic and Mitochondrial Disorders.
Q1:
December 07, 1989, Solingen, Germany
Q2:
I am a PhD student at the Department of Human Genetics, Hannover Medical School, Germany, in the lab of Prof. Dr. Ruthild Weber.
Q3:
I am fascinated by the complexity of the human genome, the exponentially increasing pace of new technologies in the field, the chance to gain insights into genetic disease mechanisms, and the possibility to translate our knowledge back into the clinic.
Q4:
The genetic basis of most patients with congenital renal malformations remains unsolved, although some genes are associated with kidney anomalies when mutated. Using WES, we identified a variant in DACT1, a gene previously associated with features overlapping Townes-Brocks syndrome. We demonstrate a statistically significant overrepresentation of rare hypomorphic DACT1 variants in our patients and provide results of functional studies.
December 07, 1989, Solingen, Germany
Q2:
I am a PhD student at the Department of Human Genetics, Hannover Medical School, Germany, in the lab of Prof. Dr. Ruthild Weber.
Q3:
I am fascinated by the complexity of the human genome, the exponentially increasing pace of new technologies in the field, the chance to gain insights into genetic disease mechanisms, and the possibility to translate our knowledge back into the clinic.
Q4:
The genetic basis of most patients with congenital renal malformations remains unsolved, although some genes are associated with kidney anomalies when mutated. Using WES, we identified a variant in DACT1, a gene previously associated with features overlapping Townes-Brocks syndrome. We demonstrate a statistically significant overrepresentation of rare hypomorphic DACT1 variants in our patients and provide results of functional studies.
Helge will speak about “Heterozygous DACT1 mutations in patients with renal anomalies and features of Townes-Brocks syndrome” in the session C14 Internal Organs.
Q1:
13 January 1985, Klang, Malaysia
Q2:
Staff Scientist
Q3:
Human genomics and genetics present vast opportunities in preventive healthcare. I am passionate about the prospect of turning whole genome/exome data into a life-long resource for sequenced individuals. I believe it is an invaluable tool for supporting individuals along their personal journey in preventive healthcare.
Q4:
This study explores institutional practices and policies surrounding personal access to raw genomic data for individuals sequenced under healthcare and research in Europe. Being the first study of its kind, it utilises a mixture of quantitative and qualitative research methods to gain valuable insights around the topic.
13 January 1985, Klang, Malaysia
Q2:
Staff Scientist
Q3:
Human genomics and genetics present vast opportunities in preventive healthcare. I am passionate about the prospect of turning whole genome/exome data into a life-long resource for sequenced individuals. I believe it is an invaluable tool for supporting individuals along their personal journey in preventive healthcare.
Q4:
This study explores institutional practices and policies surrounding personal access to raw genomic data for individuals sequenced under healthcare and research in Europe. Being the first study of its kind, it utilises a mixture of quantitative and qualitative research methods to gain valuable insights around the topic.
Shaman will speak about “Genomic sequencing capacity, data retention and personal access to raw data in Europe” in the session C16 The interplay of law, policy and genomics.
Q1:
03.11.1990 in Innsbruck, Austria
Q2:
Researcher (PostDoc) at the Institute of Human Genetics at the Medical University of Innsbruck
Q3:
I have always been fascinated by the complex, yet highly regulated metabolic network that provides us with energy and building blocks for higher molecular structures. Studying the pathomechanism of inborn errors of metabolism allows me to obtain detailed insights in this sophisticated system while simultaneously develop diagnostic tools and treatments for patients.
Q4:
In my research, I use a cell culture knockout model to study the pathomechanism of a gene mutation affecting the mitochondrial membrane lipid homeostasis. This membrane alteration causes multiple secondary phenotypes by affecting mitochondrial morphology and membrane-enzyme embedding. Interestingly, some of the observed phenotypes react to alterations of the lipid environment while others do not respond opening up different possibilities for treatment and diagnosis.
03.11.1990 in Innsbruck, Austria
Q2:
Researcher (PostDoc) at the Institute of Human Genetics at the Medical University of Innsbruck
Q3:
I have always been fascinated by the complex, yet highly regulated metabolic network that provides us with energy and building blocks for higher molecular structures. Studying the pathomechanism of inborn errors of metabolism allows me to obtain detailed insights in this sophisticated system while simultaneously develop diagnostic tools and treatments for patients.
Q4:
In my research, I use a cell culture knockout model to study the pathomechanism of a gene mutation affecting the mitochondrial membrane lipid homeostasis. This membrane alteration causes multiple secondary phenotypes by affecting mitochondrial morphology and membrane-enzyme embedding. Interestingly, some of the observed phenotypes react to alterations of the lipid environment while others do not respond opening up different possibilities for treatment and diagnosis.
Gregor will speak about “High resolution respirometric analysis of a Barth Syndrome disease model” in the session C09 Metabolic and Mitochondrial Disorders.
Q1:
September 5, 1988 – Lisbon, Portugal
Q2:
Marie Sklodowska-Curie Postdoctoral Fellow at the University of Lausanne, Switzerland
Q3:
During my bachelor’s degree in Biology I got fascinated by the intricacies of life at the molecular level and I have thus since followed a career in genetics. Discoveries in genetics have the potential to be revolutionary and greatly impact our future, yet there is still much to discover, which I personally find deeply stimulating and wish to contribute to this field.
Q4:
I will be presenting results of an innovative computational research project which studies in-depth the mechanisms leading to the co-expression of nearby genes. How many nearby genes are co-expressed and whether this occurs by chance or under tight regulation in a tissue-specific manner has long been debated. By integrating multiple datasets from diverse assays (e.g. RNA-seq, ChIP-seq, Hi-C) we provide new clues about the molecular mechanisms that are relevant in regulating gene co-expression and examine how gene co-expression is genetically controlled across human tissues. The understanding of how nearby genes are linked and co-regulated will ultimately improve the functional interpretation of past and future QTL and GWAS findings.
September 5, 1988 – Lisbon, Portugal
Q2:
Marie Sklodowska-Curie Postdoctoral Fellow at the University of Lausanne, Switzerland
Q3:
During my bachelor’s degree in Biology I got fascinated by the intricacies of life at the molecular level and I have thus since followed a career in genetics. Discoveries in genetics have the potential to be revolutionary and greatly impact our future, yet there is still much to discover, which I personally find deeply stimulating and wish to contribute to this field.
Q4:
I will be presenting results of an innovative computational research project which studies in-depth the mechanisms leading to the co-expression of nearby genes. How many nearby genes are co-expressed and whether this occurs by chance or under tight regulation in a tissue-specific manner has long been debated. By integrating multiple datasets from diverse assays (e.g. RNA-seq, ChIP-seq, Hi-C) we provide new clues about the molecular mechanisms that are relevant in regulating gene co-expression and examine how gene co-expression is genetically controlled across human tissues. The understanding of how nearby genes are linked and co-regulated will ultimately improve the functional interpretation of past and future QTL and GWAS findings.
Diogo will speak about “Local gene co-expression: molecular characterisation, tissue specificity and its genetic control” in the session C13 3D Genome Architecture.
Q1:
June 20 1992 – Heidelberg, Germany
Q2:
PhD student at the University Medical Center Utrecht, the Netherlands.
Q3:
Genetics represents a heavily translational research area. I enjoy combining basic science with genetic knowledge to identify the cause and molecular mechanism underlying a disease and eventually benefitting human health.
Q4:
My project follows the identification of a genetic cause until the development of a therapeutic treatment for a rare genetic disorder called Cantu syndrome. In order to perform therapeutic drug screening, we have developed a novel CS model in which disease-causing mutations were knocked-in to the associated gene in zebrafish. The model recapitulates key features of Cantu which significantly reverse after drug administration. In the near future this project will come full circle when we start performing clinical trials to test the compound in patients.
June 20 1992 – Heidelberg, Germany
Q2:
PhD student at the University Medical Center Utrecht, the Netherlands.
Q3:
Genetics represents a heavily translational research area. I enjoy combining basic science with genetic knowledge to identify the cause and molecular mechanism underlying a disease and eventually benefitting human health.
Q4:
My project follows the identification of a genetic cause until the development of a therapeutic treatment for a rare genetic disorder called Cantu syndrome. In order to perform therapeutic drug screening, we have developed a novel CS model in which disease-causing mutations were knocked-in to the associated gene in zebrafish. The model recapitulates key features of Cantu which significantly reverse after drug administration. In the near future this project will come full circle when we start performing clinical trials to test the compound in patients.
Helen will speak about “Characterization and treatment of overactive KATP channels associated with Cantú syndrome in zebrafish” in the sessionC11 Multiple Malformation Syndromes I.
Q1:
Porto, July 28th, 1994
Q2:
PhD student
Q3:
As a bachelors student, I developed a special interest in genetics and in understanding how genes are tightly regulated in the human body, reason why I furthered my studies in hereditary gastric cancer.
Q4:
We may have found a novel mechanism that may regulate CDH1/E-cadherin loss of function.
Porto, July 28th, 1994
Q2:
PhD student
Q3:
As a bachelors student, I developed a special interest in genetics and in understanding how genes are tightly regulated in the human body, reason why I furthered my studies in hereditary gastric cancer.
Q4:
We may have found a novel mechanism that may regulate CDH1/E-cadherin loss of function.
Celine will speak about “CDH1 regulatory noncoding elements: a hidden master for tissue-specific E-cadherin expression” in the session C13 3D Genome Architecture.
Q1:
September 25, 1993 – Uelzen, Germany
Q2:
PhD student in the group of Prof. Dr. Kerstin Kutsche at the Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Germany
Q3:
I have always been fascinated by how small aberrations in the genetic code can lead to the most severe clinical phenotypes. And although we have learned a lot about the genetic causes of rare human diseases in the past, there is still a lot of work ahead of us. I am proud to be a part of the community involved in decoding the complexity of genetic diseases. This does not only include the evaluation of genetic information, but also the interpretation of variants in a patient-related context.
Q4:
Through international collaboration and GeneMatcher, we collected 23 patients with biallelic pathogenic MADD variants identified by next-generation sequencing. We performed functional studies in five patient-derived fibroblast cell lines and provided evidence that loss of protein function causes a human disorder with a wide phenotypic spectrum ranging from predominant neurological abnormalities to a recognizable multisystem condition, comprising a characteristic constellation of neurological, endo- and exocrinological, and hematological findings.
September 25, 1993 – Uelzen, Germany
Q2:
PhD student in the group of Prof. Dr. Kerstin Kutsche at the Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Germany
Q3:
I have always been fascinated by how small aberrations in the genetic code can lead to the most severe clinical phenotypes. And although we have learned a lot about the genetic causes of rare human diseases in the past, there is still a lot of work ahead of us. I am proud to be a part of the community involved in decoding the complexity of genetic diseases. This does not only include the evaluation of genetic information, but also the interpretation of variants in a patient-related context.
Q4:
Through international collaboration and GeneMatcher, we collected 23 patients with biallelic pathogenic MADD variants identified by next-generation sequencing. We performed functional studies in five patient-derived fibroblast cell lines and provided evidence that loss of protein function causes a human disorder with a wide phenotypic spectrum ranging from predominant neurological abnormalities to a recognizable multisystem condition, comprising a characteristic constellation of neurological, endo- and exocrinological, and hematological findings.
Pauline will speak about “Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder” in the session C11 Multiple Malformation Syndromes I.
Q1:
17 March 1995, Waalwijk, the Netherlands
Q2:
PhD student at the Radboudumc in Nijmegen
Q3:
During my study in Medical Biology I was fascinated by a course in human genetics. Especially the idea that such small differences in the DNA sequence can cause very severe disorders has opened my eyes for this field. An interesting genetical research internship reassured my growing interest in this subject. I was excited to start my PhD project in translational genomics, which focusses on evaluating and optimizing novel diagnostic tools for diagnostic implementation for the study of human genetic disease. I hope to contribute to increasing the diagnostic yield in patients with (rare) genetic disorders, because I think that every patient deserves to know what genetic change causes their phenotype.
Q4:
Different types of genetic variants can be identified by using next generation sequencing. Usually short tandem repeats are not one of these types of variants that are routinely detected from these data. In our study we show the additional diagnostic value of detecting short tandem repeats from a large cohort of more than 38,000 exome sequencing samples.
17 March 1995, Waalwijk, the Netherlands
Q2:
PhD student at the Radboudumc in Nijmegen
Q3:
During my study in Medical Biology I was fascinated by a course in human genetics. Especially the idea that such small differences in the DNA sequence can cause very severe disorders has opened my eyes for this field. An interesting genetical research internship reassured my growing interest in this subject. I was excited to start my PhD project in translational genomics, which focusses on evaluating and optimizing novel diagnostic tools for diagnostic implementation for the study of human genetic disease. I hope to contribute to increasing the diagnostic yield in patients with (rare) genetic disorders, because I think that every patient deserves to know what genetic change causes their phenotype.
Q4:
Different types of genetic variants can be identified by using next generation sequencing. Usually short tandem repeats are not one of these types of variants that are routinely detected from these data. In our study we show the additional diagnostic value of detecting short tandem repeats from a large cohort of more than 38,000 exome sequencing samples.
Bart will speak about “Systematic analysis of short tandem repeats in 38,256 exomes provides additional diagnostic yield” in the session C08 Impact of diagnostics improvements in healthcare
Q1:
29th August 1988 in Munich
Q2:
I’m a resident in Human Genetics and am currently responsible for moleculargenetic testing at the Institute of Human Genetics of the Technical University Munich.
Q3:
By chance, I got to write my MD thesis on the genetics of neuromuscular disorders in the lab of Hanns Lochmüller in Newcastle and was from there on fascinated by Human Genetics as a medical discipline and Research area.
Q4:
What I find most interesting about the identification of RALGAPA1 as a novel neurodevelopmental disease gene is that it links a pathway mainly known in cancer genetics to monogenic disorders which poses therapeutic options. Additionally a drug screen in patient derived cell lines with monogenic diseases might constitute a method of indirect genetic testing.
29th August 1988 in Munich
Q2:
I’m a resident in Human Genetics and am currently responsible for moleculargenetic testing at the Institute of Human Genetics of the Technical University Munich.
Q3:
By chance, I got to write my MD thesis on the genetics of neuromuscular disorders in the lab of Hanns Lochmüller in Newcastle and was from there on fascinated by Human Genetics as a medical discipline and Research area.
Q4:
What I find most interesting about the identification of RALGAPA1 as a novel neurodevelopmental disease gene is that it links a pathway mainly known in cancer genetics to monogenic disorders which poses therapeutic options. Additionally a drug screen in patient derived cell lines with monogenic diseases might constitute a method of indirect genetic testing.
Matias will speak about “Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities” in the session C19 Multiple Malformation Syndromes II
Q1:
26/06/1983, MHOW, Indore, India
Q2:
Postdoc Fellow
Center for Genomic Medicine, Massachusetts General Hospital & Harvard Medical School Program in Medical and Population Genetics, Broad Institute of Harvard and MIT
Q3:
Genetics is the cutting edge of progressive medical science that allows me to observe changes not only in the genome but in the expression and function of the genes and proteins active in individual cells, which can help me solve the mysteries of genetical diseases and find potential cure.
Q4:
I will present the transcription signatures and co-expression modules associated with 15q13.3 recombinant genomic disorder (RGDs) which occur in individuals with autism. I will show how these methods are used to discover driver genes and their function. Alongside, I will also show convergence of disrupted pathways and networks associated with two RGDs, 16p11.2 and 15q13.3.
26/06/1983, MHOW, Indore, India
Q2:
Postdoc Fellow
Center for Genomic Medicine, Massachusetts General Hospital & Harvard Medical School Program in Medical and Population Genetics, Broad Institute of Harvard and MIT
Q3:
Genetics is the cutting edge of progressive medical science that allows me to observe changes not only in the genome but in the expression and function of the genes and proteins active in individual cells, which can help me solve the mysteries of genetical diseases and find potential cure.
Q4:
I will present the transcription signatures and co-expression modules associated with 15q13.3 recombinant genomic disorder (RGDs) which occur in individuals with autism. I will show how these methods are used to discover driver genes and their function. Alongside, I will also show convergence of disrupted pathways and networks associated with two RGDs, 16p11.2 and 15q13.3.
Rachita will speak about “Tissue-specific transcriptional and functional signatures in reciprocal genomic disorders : Insights from integrated mouse and human neuronal models” in the session C12 Neuropsychiatry
These authors will present on Monday, June 8, 2020
Q1:
May 28th, 1990 in Lleida (Spain)
Q2:
PhD student at Functional and Translational Neurogenetics Unit in Germans Trias i Pujol Research Institute (IGTP)
Q3:
Many of the genetic diseases, especially neurological ones, currently still need to be characterized and have no treatment. Therefore, my interest is to contribute scientifically in these aspects.
Q4:
A proof-of-concept of a gene therapy vector with clinical therapeutic potential to treat Friedreich’s ataxia disease.
May 28th, 1990 in Lleida (Spain)
Q2:
PhD student at Functional and Translational Neurogenetics Unit in Germans Trias i Pujol Research Institute (IGTP)
Q3:
Many of the genetic diseases, especially neurological ones, currently still need to be characterized and have no treatment. Therefore, my interest is to contribute scientifically in these aspects.
Q4:
A proof-of-concept of a gene therapy vector with clinical therapeutic potential to treat Friedreich’s ataxia disease.
Eudald will speak about “Single-intrathecal delivery of a new AAV9-mediated gene therapy vector provides long-term safe expression of frataxin and prevents neurological and cardiac deficits, neurodegeneration and iron deposition in a Friedreich’s Ataxia mouse model” in the session C17 New therapeutic approaches.
Q2:
I am a neurology registrar and PhD student at UCL. My project, supervised by Professors Mina Ryten and Henry Houlden, leverages machine learning and other bioinformatic techniques to further understanding of neurogenetic disorders. I am also involved in Neurogenetics clinics at Queen Square, London, integrating research directly with patient care.
Q3:
I became interested when I cared for a patient with a neurogenetic disorder in medical school and witnessed the importance of genetics in helping the patient and family gain a diagnosis. I became fascinated in advances in genomic medicine and elegant techniques crucial in understanding pathophysiology, culminating in this PhD.
Q4:
Our research generates a novel granular annotation that identifies genomic regions specific to humans (visualisation released: https://snca.atica.um.es/browser/app/vizER). We show that this annotation prioritises genes and transcripts important in brain disorders, such as APOE intron-3 retention event associated with severe tau pathology. This shows the importance of human-lineage-specific sequences in neurodegeneration.
I am a neurology registrar and PhD student at UCL. My project, supervised by Professors Mina Ryten and Henry Houlden, leverages machine learning and other bioinformatic techniques to further understanding of neurogenetic disorders. I am also involved in Neurogenetics clinics at Queen Square, London, integrating research directly with patient care.
Q3:
I became interested when I cared for a patient with a neurogenetic disorder in medical school and witnessed the importance of genetics in helping the patient and family gain a diagnosis. I became fascinated in advances in genomic medicine and elegant techniques crucial in understanding pathophysiology, culminating in this PhD.
Q4:
Our research generates a novel granular annotation that identifies genomic regions specific to humans (visualisation released: https://snca.atica.um.es/browser/app/vizER). We show that this annotation prioritises genes and transcripts important in brain disorders, such as APOE intron-3 retention event associated with severe tau pathology. This shows the importance of human-lineage-specific sequences in neurodegeneration.
Zhongbo will speak about “Human-lineage-specific genomic elements are enriched within genes implicated in neurodegenerative diseases” in the session C20 Neurogenetics.
Q1:
09.04.1992 Copertino (LE)
Q2:
Post-doc.
Q3:
Because genetics has always fascinated me, since when I start to study it during my bachelor degree, and fortunately I had the chance to continue to deepen my studies in this field with the PhD. Because genetics has always fascinated me, since when I start to study it during my bachelor degree, and fortunately I had the chance to continue to deepen my studies in this field with the PhD.
Q4:
We have demonstrated how we are able to correct causative mutations of alport syndrome in COL4A3 and COL4A5 genes through CRISPR/Cas9-based approach and we have demonstrated also that the same approach can be used in the correction of a 10bp deletion in a naturally occurring dog model of AS.
09.04.1992 Copertino (LE)
Q2:
Post-doc.
Q3:
Because genetics has always fascinated me, since when I start to study it during my bachelor degree, and fortunately I had the chance to continue to deepen my studies in this field with the PhD. Because genetics has always fascinated me, since when I start to study it during my bachelor degree, and fortunately I had the chance to continue to deepen my studies in this field with the PhD.
Q4:
We have demonstrated how we are able to correct causative mutations of alport syndrome in COL4A3 and COL4A5 genes through CRISPR/Cas9-based approach and we have demonstrated also that the same approach can be used in the correction of a 10bp deletion in a naturally occurring dog model of AS.
Sergio will speak about “CRISPR/Cas9 gene editing approach completely repaired the causative COL4A5 10bp deletion in a naturally occurring dog model of Alport Syndrome” in the session C17 New therapeutic approaches.
Q1:
May 13th 1996, Abu Dhabi – UAE
Q2:
PhD student at the University of Lausanne, under the supervision of Prof. Zoltán Kutalik in the Statistical Genetics Group.
Q3:
I’ve always been naturally curious and in search of answers to the question “why?”. Biology, particularly genetics, offered me the opportunity to discover and understand possible answers to nearly the last levels of questioning. Bioinformatics then helped me reach answers faster, especially with the analysis of large genetic data and complex traits and diseases.
Q4:
Our Latent Heritable Confounder (LHC-MR) method is a novel extension to standard Mendelian Randomisation (MR) methods that aim to estimate the causal effect between an exposure/risk factor and an outcome/disease using significant SNPs as instrumental variables. LHC-MR is unique in that it accounts for possible assumption violations of MR, by incorporating a latent (unmeasured) heritable confounder that can affect the causal relationship between the two traits. It simultaneously measures the effect of the confounder on the exposure and outcome, the bidirectional causal effect between the two, as well as the direct heritability on the traits, all while using genome-wide summary statistics.
May 13th 1996, Abu Dhabi – UAE
Q2:
PhD student at the University of Lausanne, under the supervision of Prof. Zoltán Kutalik in the Statistical Genetics Group.
Q3:
I’ve always been naturally curious and in search of answers to the question “why?”. Biology, particularly genetics, offered me the opportunity to discover and understand possible answers to nearly the last levels of questioning. Bioinformatics then helped me reach answers faster, especially with the analysis of large genetic data and complex traits and diseases.
Q4:
Our Latent Heritable Confounder (LHC-MR) method is a novel extension to standard Mendelian Randomisation (MR) methods that aim to estimate the causal effect between an exposure/risk factor and an outcome/disease using significant SNPs as instrumental variables. LHC-MR is unique in that it accounts for possible assumption violations of MR, by incorporating a latent (unmeasured) heritable confounder that can affect the causal relationship between the two traits. It simultaneously measures the effect of the confounder on the exposure and outcome, the bidirectional causal effect between the two, as well as the direct heritability on the traits, all while using genome-wide summary statistics.
Liza will speak about “Simultaneous estimation of bi-directional causal effects and heritable confounding from GWAS summary statistics” in the session C21 Methods and applications of association studies in large cohorts.
Q1:
7/4/1984, Damietta, Egypt
Q2:
PhD student in Human Genetics, Faculty of Medicine, University of Southampton, UK
Q3:
I am interested in personalised medicine through my career in healthcare in Egypt. As a pharmacist. Many serious decisions are based on the individual experience of the clinicians, rather than being truly evidence based, so seeding the medical field with experience in genetics is significant. Also, I was inspired by the developments in Next Generation Sequencing, and the evolution of the British 100K genome project.
Q4:
Smoking history is strongly associated with ASXL1 mutated Clonal Haematopoiesis (CH) and genetic variation at TERT may predispose to CH independently of predisposition to myeloprolifrative disease. It is possible therefore that chronic inflammation provides a link between genetic and environmental predisposition to CH.
7/4/1984, Damietta, Egypt
Q2:
PhD student in Human Genetics, Faculty of Medicine, University of Southampton, UK
Q3:
I am interested in personalised medicine through my career in healthcare in Egypt. As a pharmacist. Many serious decisions are based on the individual experience of the clinicians, rather than being truly evidence based, so seeding the medical field with experience in genetics is significant. Also, I was inspired by the developments in Next Generation Sequencing, and the evolution of the British 100K genome project.
Q4:
Smoking history is strongly associated with ASXL1 mutated Clonal Haematopoiesis (CH) and genetic variation at TERT may predispose to CH independently of predisposition to myeloprolifrative disease. It is possible therefore that chronic inflammation provides a link between genetic and environmental predisposition to CH.
Ahmed will speak about “Clonal myelopoiesis in the UK biobank cohort: somatic ASXL1 mutations are strongly associated with smoking history” in the session C22 Immunology and hematology.
Q1:
June 17, 1988, Lüdenscheid, Germany
Q2:
Resident physician in pediatrics, postdoctoral fellow
Q3:
Genetics combines clinical observation of our patients and their families with molecular analysis. Understanding the genetic basis and translating knowledge to the bedside is complex and challenging – but it is absolutely fascinating. Therefore, I decided to work as a pediatrician and to pursue genetic research on congenital malformations.
Q4:
We show that biallelic and monoallelic variants in PLXNA1 cause a neurodevelopmental disorder including brain malformations in ten families. Genetic and phenotypic analyses are complemented by functional studies in zebrafish larvae. Our results elucidate the growing number of single loci harboring biallelic and monoallelic pathogenic variation.
June 17, 1988, Lüdenscheid, Germany
Q2:
Resident physician in pediatrics, postdoctoral fellow
Q3:
Genetics combines clinical observation of our patients and their families with molecular analysis. Understanding the genetic basis and translating knowledge to the bedside is complex and challenging – but it is absolutely fascinating. Therefore, I decided to work as a pediatrician and to pursue genetic research on congenital malformations.
Q4:
We show that biallelic and monoallelic variants in PLXNA1 cause a neurodevelopmental disorder including brain malformations in ten families. Genetic and phenotypic analyses are complemented by functional studies in zebrafish larvae. Our results elucidate the growing number of single loci harboring biallelic and monoallelic pathogenic variation.
Gabriel will speak about “Biallelic and monoallelic variants in PLXNA1 cause a syndromic disorder with neurodevelopmental and oculo-cerebral anomalies” in session C28 Neurodevelopment.
Q1:
21/07/1991, Wollongong, Australia
Q2:
PhD Candidate at the Psychosocial Cancer Genomics Group, Peter MacCallum Cancer Centre and the University of Melbourne, Australia.
Q3:
I chose a career in genetic counselling research because I find the intersection between genetics, counselling and social science fascinating. My passion lies in exploring how individuals and families experience genetic disease, and how they use and experience genetic technology in order to improve their psychosocial and health outcomes.
Q4:
My presentation cuts to the heart of a growing issue in genetic counselling: how to provide developmentally appropriate care to adolescents and young adults. From the perspectives of young people and health professionals, I offer a novel, mixed method exploration of genetic testing for young people at significant risk of multi-organ cancer who are still negotiating autonomy from family.
21/07/1991, Wollongong, Australia
Q2:
PhD Candidate at the Psychosocial Cancer Genomics Group, Peter MacCallum Cancer Centre and the University of Melbourne, Australia.
Q3:
I chose a career in genetic counselling research because I find the intersection between genetics, counselling and social science fascinating. My passion lies in exploring how individuals and families experience genetic disease, and how they use and experience genetic technology in order to improve their psychosocial and health outcomes.
Q4:
My presentation cuts to the heart of a growing issue in genetic counselling: how to provide developmentally appropriate care to adolescents and young adults. From the perspectives of young people and health professionals, I offer a novel, mixed method exploration of genetic testing for young people at significant risk of multi-organ cancer who are still negotiating autonomy from family.
Rowan will speak about “Negotiating autonomy and interdependence with family: how young people and health professionals navigate genetic testing for Li-Fraumeni syndrome” in session C23 Counselling, communication and deliberation.
Q1:
June 28th, 1990 in Pinneberg, Germany
Q2:
PhD student in the Neurooncogenetics research group at the Department of Human Genetics at Hannover Medical School, Germany
Q3:
During high school I became fascinated by genetics and how our complex phenotypes are encoded by DNA and that even a small genetic alteration can cause big changes. Since genetics is a rapidly growing field that allows going from bench to bedside and vice versa, patients in particular can benefit from our research, which is very important to me.
Q4:
The research I am presenting provides insights into rare variants in the tumor suppressor gene CDH1 that may contribute to the risk and tumorigenesis of familial gliomas, which have been poorly understood to date. We used whole-genome, whole-exome and targeted sequencing on glioma families and investigated the effects of the identified germline variants by CRISPR/Cas9-mediated knock-in or stably transfected cell models.
June 28th, 1990 in Pinneberg, Germany
Q2:
PhD student in the Neurooncogenetics research group at the Department of Human Genetics at Hannover Medical School, Germany
Q3:
During high school I became fascinated by genetics and how our complex phenotypes are encoded by DNA and that even a small genetic alteration can cause big changes. Since genetics is a rapidly growing field that allows going from bench to bedside and vice versa, patients in particular can benefit from our research, which is very important to me.
Q4:
The research I am presenting provides insights into rare variants in the tumor suppressor gene CDH1 that may contribute to the risk and tumorigenesis of familial gliomas, which have been poorly understood to date. We used whole-genome, whole-exome and targeted sequencing on glioma families and investigated the effects of the identified germline variants by CRISPR/Cas9-mediated knock-in or stably transfected cell models.
Alisa will speak about “Rare germline variants in the tumor suppressor gene CDH1 are associated with familial glioma” in session C18 Clinical Cancer Research.
Q1:
8th of June 1991 in Schweinfurt, Germany
Q2:
Research Fellow at Dana Farber Cancer Institute and Harvard Medical School
Q3:
I was drawn to the field of genetics as a wealth of data from very impressive experiments and actual patient cohorts facilitates an interplay between impactful questions and quantitative methods in order to gain understanding from the fundamental code of life to problems directly relating to human health.
Q4:
We are studying a large cohort of patients on immune checkpoint inhibitors with clinical and genetic data, which enables us not only to investigate biological mechanisms through association studies, but we can also build a “phenomarker” from all available data for prediction of overall survival and immune related adverse events, which has the potential to improve patient lives.
8th of June 1991 in Schweinfurt, Germany
Q2:
Research Fellow at Dana Farber Cancer Institute and Harvard Medical School
Q3:
I was drawn to the field of genetics as a wealth of data from very impressive experiments and actual patient cohorts facilitates an interplay between impactful questions and quantitative methods in order to gain understanding from the fundamental code of life to problems directly relating to human health.
Q4:
We are studying a large cohort of patients on immune checkpoint inhibitors with clinical and genetic data, which enables us not only to investigate biological mechanisms through association studies, but we can also build a “phenomarker” from all available data for prediction of overall survival and immune related adverse events, which has the potential to improve patient lives.
Stefan will speak about “Germline, somatic and clinical associations with response to Immune Checkpoint Inhibitors and adverse events in a large patient cohort” in session C18 Clinical Cancer Research.
Q1:
28/12/1990 in Hanoi, Vietnam
Q2:
PhD student at the Imagine Institute, Paris, France
Q3:
In secondary school, we were taught to count peas. So I started to grow peas, raise swordtail fishes and count the offsprings. These projects did not yield any significant result and neither did the following ones. Yet I have enjoyed learning new lessons everyday. The pleasure of understanding living creatures has kept me working ever since. Genetics is such a fascinating field that may fulfil anyone who gives it a try.
Q4:
On behalf of our research group, I will present to you our work on a possibly novel syndrome that is similar but not identical to several ciliopathies. The affected children presented with a broad spectrum of developmental anomalies associated with a loss of SMO function. Our analyses of Hedgehog signal transduction in patient cells have posed questions that challenge our current knowledge of this evolutionarily conserved pathway.
28/12/1990 in Hanoi, Vietnam
Q2:
PhD student at the Imagine Institute, Paris, France
Q3:
In secondary school, we were taught to count peas. So I started to grow peas, raise swordtail fishes and count the offsprings. These projects did not yield any significant result and neither did the following ones. Yet I have enjoyed learning new lessons everyday. The pleasure of understanding living creatures has kept me working ever since. Genetics is such a fascinating field that may fulfil anyone who gives it a try.
Q4:
On behalf of our research group, I will present to you our work on a possibly novel syndrome that is similar but not identical to several ciliopathies. The affected children presented with a broad spectrum of developmental anomalies associated with a loss of SMO function. Our analyses of Hedgehog signal transduction in patient cells have posed questions that challenge our current knowledge of this evolutionarily conserved pathway.
Thuy-Linh will speak about “Biallelic loss-of-function variations in SMO, encoding the key transducer of the Sonic Hedgehog pathway, cause a broad phenotypic spectrum of hedgehogopathies” in the session C19 Multiple Malformation Syndromes II.
Q1:
05.05.1993, Tallinn, Estonia
Q2:
PhD student
Q3:
To me, genetics is an extremely interesting field to work on because it enables addressing important real-life problems such as personalised medicine or understanding our genetic architecture. Meanwhile, the field is developing rapidly, and the process is an incredible learning experience every day, expanding the knowledge on statistical methods or biological mechanisms.
Q4:
Our research enables detecting genotype-phenotype associations for censored phenotypes. For example, time of death is often not recorded but we can still use the individual’s last known time alive. By using such information in a comprehensive framework, we get a notable boost in power along with the ability to get improved predictions and understand genetic architecture better.
05.05.1993, Tallinn, Estonia
Q2:
PhD student
Q3:
To me, genetics is an extremely interesting field to work on because it enables addressing important real-life problems such as personalised medicine or understanding our genetic architecture. Meanwhile, the field is developing rapidly, and the process is an incredible learning experience every day, expanding the knowledge on statistical methods or biological mechanisms.
Q4:
Our research enables detecting genotype-phenotype associations for censored phenotypes. For example, time of death is often not recorded but we can still use the individual’s last known time alive. By using such information in a comprehensive framework, we get a notable boost in power along with the ability to get improved predictions and understand genetic architecture better.
Sven will speak about “Discovery, estimation and prediction analysis using a Bayesian survival model for complex traits” in the session C21 Methods and applications of association studies in large cohorts.
Q1:
26/10/1992, Trento (Italy)
Q2:
PhD student
Q3:
Studying spinal muscular atrophy during my Masters, I experienced that understanding disease mechanisms leading to a genetic disorder was challenging yet extremely rewarding. I continued my PhD in neurogenetics, aiming to expand the knowledge of the scientific community and, ultimately, to lay the foundation for the development of novel therapies.
Q4:
Here I present a new epileptic encephalopathy syndrome caused by a recurrent homozygous mutation in UGP2. This mutation represents a novel mechanism of pathogenicity where a tissue-specific isoform of a protein essential for life is missing predominantly in brain, allowing the individuals’ birth but leading to severe neurodevelopmental defects.
26/10/1992, Trento (Italy)
Q2:
PhD student
Q3:
Studying spinal muscular atrophy during my Masters, I experienced that understanding disease mechanisms leading to a genetic disorder was challenging yet extremely rewarding. I continued my PhD in neurogenetics, aiming to expand the knowledge of the scientific community and, ultimately, to lay the foundation for the development of novel therapies.
Q4:
Here I present a new epileptic encephalopathy syndrome caused by a recurrent homozygous mutation in UGP2. This mutation represents a novel mechanism of pathogenicity where a tissue-specific isoform of a protein essential for life is missing predominantly in brain, allowing the individuals’ birth but leading to severe neurodevelopmental defects.
Elena will speak about “Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform specific start-loss mutations of essential genes can cause genetic diseases” in the session C20 Neurogenetics.
Q1:
February 14th 1982, Buenos Aires, Argentina
Q2:
Assistant researcher and neurologist
Q3:
I believe the understanding of genetics and genomics is key to unravel the physiopathological pathways of neurological disorders.
I also think that clear and simple genetic counselling of complex situations is essential for good patient’s care.
Q4:
The research I am presenting at the conference is very interesting because we discovered the causative link of the gene JAM2 encoding a junctional adhesion molecule with a genetic disorder known as primary familial brain calcification. We also provided functional work and a mouse model to support our genomic findings.
This discovery is important because understanding of the pathways involved are the first step towards targeted therapies of this disease, and also it helped us specifically to provide answers and counselling to the families involved.
February 14th 1982, Buenos Aires, Argentina
Q2:
Assistant researcher and neurologist
Q3:
I believe the understanding of genetics and genomics is key to unravel the physiopathological pathways of neurological disorders.
I also think that clear and simple genetic counselling of complex situations is essential for good patient’s care.
Q4:
The research I am presenting at the conference is very interesting because we discovered the causative link of the gene JAM2 encoding a junctional adhesion molecule with a genetic disorder known as primary familial brain calcification. We also provided functional work and a mouse model to support our genomic findings.
This discovery is important because understanding of the pathways involved are the first step towards targeted therapies of this disease, and also it helped us specifically to provide answers and counselling to the families involved.
Lucia will speak about “Biallelic JAM2 variants lead to early-onset recessive primary familial brain calcification” in the session C20 Neurogenetics.
Q1:
15-1-1982, Amsterdam
Q2:
PhD
Q3:
I am a psychologist. The field of clinical genetics has many psychological themes which are interesting to focus on in research and treatment. I consider it attractive that clinical genetics encompasses so many different medical fields. Furthermore the range of techniques which are possible in genetic testing are very unusual, innovative, somewhat mysterious and futuristic.
Q4:
We present a new way of distinguishing subgroups among counselees based on different facets of empowerment by latent profile analysis. Earlier we discovered different facets of empowerment in a validation study of the genetic counselling outcome scale. Different outcomes on these facets makes it possible to distinguish different types of counselees and their specific needs regarding genetic counselling. Our findings could help to tailor the genetic counselling process towards the needs of counselees, and therefore make the genetic counselling process more effective and efficient. The novelty of our findings could be interesting: distinguishing profiles among counselees, the discovery of different facets in empowerment, latent profile analysis as a statistical technique to look differently at data.
15-1-1982, Amsterdam
Q2:
PhD
Q3:
I am a psychologist. The field of clinical genetics has many psychological themes which are interesting to focus on in research and treatment. I consider it attractive that clinical genetics encompasses so many different medical fields. Furthermore the range of techniques which are possible in genetic testing are very unusual, innovative, somewhat mysterious and futuristic.
Q4:
We present a new way of distinguishing subgroups among counselees based on different facets of empowerment by latent profile analysis. Earlier we discovered different facets of empowerment in a validation study of the genetic counselling outcome scale. Different outcomes on these facets makes it possible to distinguish different types of counselees and their specific needs regarding genetic counselling. Our findings could help to tailor the genetic counselling process towards the needs of counselees, and therefore make the genetic counselling process more effective and efficient. The novelty of our findings could be interesting: distinguishing profiles among counselees, the discovery of different facets in empowerment, latent profile analysis as a statistical technique to look differently at data.
Jan will speak about “Towards personalized genetic counselling: exploring subgroups among counselees based on different facets of empowerment before the first visit” in the session C23 Counselling, communication and deliberation.
These authors will present on Tuesday, June 9, 2020
Q1:
06.06.1989, Peshawar
Q2:
I am working as PhD student in Cologne Center for Genomics and Institute of Biochemistry I, Medical faculty, University of Cologne, Germany.
Q3:
I belong to Pakistan where more than 50% marriages are consanguineous thus resulting in an increased incidence of genetic anomalies. My extended family is afflicted with β-thalassemia and epilepsy which intrigued me to solve the mysteries hidden in the twists of DNA and contribute in the cure of rare diseases.
Q4:
I have delineated the genetic underpinnings and pathomechanism of an extremely rare and underexplored disorder — Filippi syndrome (FLPIS) with 32 reported cases and a single causative gene. My study demonstrates the second causal gene CSNK2B of FLPIS showing intolerance for de novo events and the pleotropic mutational effects also expound phenotypic variability.
06.06.1989, Peshawar
Q2:
I am working as PhD student in Cologne Center for Genomics and Institute of Biochemistry I, Medical faculty, University of Cologne, Germany.
Q3:
I belong to Pakistan where more than 50% marriages are consanguineous thus resulting in an increased incidence of genetic anomalies. My extended family is afflicted with β-thalassemia and epilepsy which intrigued me to solve the mysteries hidden in the twists of DNA and contribute in the cure of rare diseases.
Q4:
I have delineated the genetic underpinnings and pathomechanism of an extremely rare and underexplored disorder — Filippi syndrome (FLPIS) with 32 reported cases and a single causative gene. My study demonstrates the second causal gene CSNK2B of FLPIS showing intolerance for de novo events and the pleotropic mutational effects also expound phenotypic variability.
Maria will speak about “De novo pathogenic variants in CSNK2B cause a new intellectual disability-craniodigital syndrome distinguished from Poirier-Bienvenu neurodevelopmental syndrome” in the session C28 Neurodevelopment.
Q1:
29.03.1992, Herrenberg, Germany
Q2:
Ph.D. Student
Q3:
What I love about genetics, is that it combines my two favorite aspects of medicine: 1) understanding what’s going wrong & what causes a disease 2) doing something about it & solving the problem
Q4:
I work in the innovative field of retinal organoids. I use induced pluripotent stem cells from patients with a hereditary retinal dystrophy, to differentiate human retinas in a petri dish. My goal is to use these mini-retinas to understand why the patients become blind, and to find a way to fix the problem.
29.03.1992, Herrenberg, Germany
Q2:
Ph.D. Student
Q3:
What I love about genetics, is that it combines my two favorite aspects of medicine: 1) understanding what’s going wrong & what causes a disease 2) doing something about it & solving the problem
Q4:
I work in the innovative field of retinal organoids. I use induced pluripotent stem cells from patients with a hereditary retinal dystrophy, to differentiate human retinas in a petri dish. My goal is to use these mini-retinas to understand why the patients become blind, and to find a way to fix the problem.
Patricia will speak about “Patient-derived retinal organoids to model retinitis pigmentosa 1 (RP1)” in the session C26 New Technologies and Approaches.
Q1:
May 16, 1991- Jette, Belgium
Q2:
PhD student at the Center for Medical Genetics Ghent
Dermatology resident at the Ghent University Hospital
Q3:
Being given the opportunity to study hereditary connective tissue disorders, the field of genetics has captivated me with its complexity and challenging dynamics. The combination of my medical studies with genetic research allows me to stand very close to patients with rare disorders and make a difference in the search for the underlying disease mechanisms.
Q4:
Discovering a new disease entity is a dream for every geneticist. What makes it even more exciting is its excellent integration into other related disorders, which not only allows us to broaden our understanding of extracellular matrix functioning, but also permits to improve the diagnostics in patients with connective tissue disorders.
May 16, 1991- Jette, Belgium
Q2:
PhD student at the Center for Medical Genetics Ghent
Dermatology resident at the Ghent University Hospital
Q3:
Being given the opportunity to study hereditary connective tissue disorders, the field of genetics has captivated me with its complexity and challenging dynamics. The combination of my medical studies with genetic research allows me to stand very close to patients with rare disorders and make a difference in the search for the underlying disease mechanisms.
Q4:
Discovering a new disease entity is a dream for every geneticist. What makes it even more exciting is its excellent integration into other related disorders, which not only allows us to broaden our understanding of extracellular matrix functioning, but also permits to improve the diagnostics in patients with connective tissue disorders.
Aude will speak about “Homozygous EMILIN1 loss-of-function variants impair both elastin and collagen fiber formation and cause a novel entity with arterial tortuosity and osteopenia” in the session C29 Skin & Bones.
Q1:
28/05/1990 Nicosia, Cyprus
Q2:
Phd candidate
Q3:
A knowledge of genetics is fundamental to our understanding of the evolution of the human population. The availability of sequences and genomic analysis, gives us powerful tools for looking at the way genes work to make us what we are.
Q4:
The interesting overlap in molecular mechanisms of paranodal damage at peripheral nerves in both the immune-mediated and the genetic disease. The observation of prominent central neurological involvement in NFASC biallelic variant carriers highlights the importance of this gene in human brain development and function.
28/05/1990 Nicosia, Cyprus
Q2:
Phd candidate
Q3:
A knowledge of genetics is fundamental to our understanding of the evolution of the human population. The availability of sequences and genomic analysis, gives us powerful tools for looking at the way genes work to make us what we are.
Q4:
The interesting overlap in molecular mechanisms of paranodal damage at peripheral nerves in both the immune-mediated and the genetic disease. The observation of prominent central neurological involvement in NFASC biallelic variant carriers highlights the importance of this gene in human brain development and function.
Stephanie will speak about “De-novo and Biallelic pathogenic variants in NARS1 cause neurodevelopmental delay due to dominant negative and partial loss of function effect” in the session C28 Neurodevelopment.
Q1:
25.05.1990, Lüneburg, Germany
Q2:
I am a postdoctoral researcher in the group of Professor Dr. Kerstin Kutsche at the Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Germany.
Q3:
I think I did not consciously choose a career in genetics. In retrospective, it feels like it was just the topic I had to choose to have everything I always thought a scientific carrier has to have. Human genetics is not only about identifying new disease genes and understanding pathomechanisms but also about supporting patients and their families. This emotional component is literally the icing on the cake and my everyday motivation. As I work on a broad spectrum of phenotypes, which means new genes, proteins, and pathways basically with every new patient, the repertoire of biochemical and cell biological methods I use to elucidate the underlying pathomechanisms is similar diverse as the phenotypes. To make a long story short: sometimes, genetics can be challenging but it will never become boring to me.
Q4:
By next-generation sequencing, we identified biallelic loss-of-function variants in TBC1D2B as a cause of a neurodevelopmental disorder with seizures and gingival overgrowth. We performed functional studies in CRISPR/Cas9-mediated TBC1D2B knockout HeLa cell lines and discovered deficits in vesicle trafficking and cell survival to be part of the underlying pathomechanism of the disease.
25.05.1990, Lüneburg, Germany
Q2:
I am a postdoctoral researcher in the group of Professor Dr. Kerstin Kutsche at the Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Germany.
Q3:
I think I did not consciously choose a career in genetics. In retrospective, it feels like it was just the topic I had to choose to have everything I always thought a scientific carrier has to have. Human genetics is not only about identifying new disease genes and understanding pathomechanisms but also about supporting patients and their families. This emotional component is literally the icing on the cake and my everyday motivation. As I work on a broad spectrum of phenotypes, which means new genes, proteins, and pathways basically with every new patient, the repertoire of biochemical and cell biological methods I use to elucidate the underlying pathomechanisms is similar diverse as the phenotypes. To make a long story short: sometimes, genetics can be challenging but it will never become boring to me.
Q4:
By next-generation sequencing, we identified biallelic loss-of-function variants in TBC1D2B as a cause of a neurodevelopmental disorder with seizures and gingival overgrowth. We performed functional studies in CRISPR/Cas9-mediated TBC1D2B knockout HeLa cell lines and discovered deficits in vesicle trafficking and cell survival to be part of the underlying pathomechanism of the disease.
Frederike will speak about “Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth” in the session C28 Neurodevelopment.
Q1:
08.10.1988, Kaufbeuren
Q2:
PhD Candidate
Q3:
I was always fascinated by evolution and the diversity of life and how it is shaped through genetics. I devoured news about the human genome project during my high-school years and wanted to contribute to the 1000G and Neanderthal Project. My dream was to apply evolutionary insights from the diverse tree of life to human health.
Q4:
I think it’s exciting to learn from our ancestors and closely related species about our current phenotypes and use these evolutionary principles to aid clinicians and researchers alike. By looking at structural variants (SVs) in the chimpanzee genome we were able to estimate the effect of human SVs which might explain unresolved phenotypes.
08.10.1988, Kaufbeuren
Q2:
PhD Candidate
Q3:
I was always fascinated by evolution and the diversity of life and how it is shaped through genetics. I devoured news about the human genome project during my high-school years and wanted to contribute to the 1000G and Neanderthal Project. My dream was to apply evolutionary insights from the diverse tree of life to human health.
Q4:
I think it’s exciting to learn from our ancestors and closely related species about our current phenotypes and use these evolutionary principles to aid clinicians and researchers alike. By looking at structural variants (SVs) in the chimpanzee genome we were able to estimate the effect of human SVs which might explain unresolved phenotypes.
Philip will speak about “Predicting the effects of structural variants in the human genome” in the session C27 Genome Variation and Architecture.
Q1:
Toronto, Canada
Q2:
Research Associate, Department of Public Health and Primary Care, University of Cambridge
Visiting Postdoctoral Fellow, European Bioinformatics Institute
Q3:
Because the genotype to phenotype problem is fascinating! Both at the level of the diversity of cell types that can be specified in a single genome, and how it patterns genetic predisposition to different traits and diseases.
Q4:
Polygenic [risk] scores (PGS) have emerged as a common tool to predict genetic predisposition to traits and disease. PGS have multiple potential research and clinical applications, but we still don’t have a good handle on how well they work. My work enables new uses and evaluation of PGS predictive ability by collecting and annotating key information about available scores.
Toronto, Canada
Q2:
Research Associate, Department of Public Health and Primary Care, University of Cambridge
Visiting Postdoctoral Fellow, European Bioinformatics Institute
Q3:
Because the genotype to phenotype problem is fascinating! Both at the level of the diversity of cell types that can be specified in a single genome, and how it patterns genetic predisposition to different traits and diseases.
Q4:
Polygenic [risk] scores (PGS) have emerged as a common tool to predict genetic predisposition to traits and disease. PGS have multiple potential research and clinical applications, but we still don’t have a good handle on how well they work. My work enables new uses and evaluation of PGS predictive ability by collecting and annotating key information about available scores.
Samuel will speak about “The Polygenic Score (PGS) Catalog: an open database to enable reproducibility and systematic evaluation” in the session C30 Polygenic risk scores: From tool to practice.
Q1:
Finland
Q2:
Postdoctoral researcher at the Institute for Molecular Medicine Finland (FIMM) Q3:
With a formal education in both medicine and statistics, genomics felt like a specially compelling field for me, particularly now with the active ongoing research on integration of genomics into routine clinical practice. While treating breast cancer patients in the clinic during this project, I found it highly rewarding to be able to calibrate my research question to match the needs of everyday clinical challenges.
Q4:
We and others have previously shown that polygenic risk scores can improve breast cancer risk assessment. In this study, we wanted to take this assessment a step further, looking at specific clinical situations where breast cancer PRS could be useful. Not only did we find that the PRS is able to identify women at increased risk for advanced breast cancer and breast cancer mortality, but that it also strongly alters the risk of breast cancer in PALB2 and CHEK2 mutation carriers. Moreover, the PRS increased the risk of contralateral breast cancer, and considerably improved risk assessment among a patient’s first-degree relatives. These findings have important clinical implications, paving the way towards a comprehensive way of assessing genetic risk in the general population, in breast cancer patients, and in unaffected family members.
Finland
Q2:
Postdoctoral researcher at the Institute for Molecular Medicine Finland (FIMM) Q3:
With a formal education in both medicine and statistics, genomics felt like a specially compelling field for me, particularly now with the active ongoing research on integration of genomics into routine clinical practice. While treating breast cancer patients in the clinic during this project, I found it highly rewarding to be able to calibrate my research question to match the needs of everyday clinical challenges.
Q4:
We and others have previously shown that polygenic risk scores can improve breast cancer risk assessment. In this study, we wanted to take this assessment a step further, looking at specific clinical situations where breast cancer PRS could be useful. Not only did we find that the PRS is able to identify women at increased risk for advanced breast cancer and breast cancer mortality, but that it also strongly alters the risk of breast cancer in PALB2 and CHEK2 mutation carriers. Moreover, the PRS increased the risk of contralateral breast cancer, and considerably improved risk assessment among a patient’s first-degree relatives. These findings have important clinical implications, paving the way towards a comprehensive way of assessing genetic risk in the general population, in breast cancer patients, and in unaffected family members.
Nina will speak about “Polygenic risk, breast cancer susceptibility genes, and breast cancer over the life course” in the session C30 Polygenic risk scores: From tool to practice.
Q1:
26 June 1980. Bogota, Colombia
Q2:
Senior Post-doctorate in the laboratory of human genetics, Erasmus MC, Rotterdam, the Netherlands
Q3:
We all are in a quest for truth, since I was pretty young I have thought that all the answers are written in DNA.
Q4:
The use of PRS in clinics have an enormous potential. My work is using this strategy to identify these individuals who are likely to present ostoporotic fractures earlier, and although in its initial stages I hope my research will add to the current assessment tool used in clinics.
26 June 1980. Bogota, Colombia
Q2:
Senior Post-doctorate in the laboratory of human genetics, Erasmus MC, Rotterdam, the Netherlands
Q3:
We all are in a quest for truth, since I was pretty young I have thought that all the answers are written in DNA.
Q4:
The use of PRS in clinics have an enormous potential. My work is using this strategy to identify these individuals who are likely to present ostoporotic fractures earlier, and although in its initial stages I hope my research will add to the current assessment tool used in clinics.
Maria will speak about “Genetic assessment of age-associated fracture risk” in the session C30 Polygenic risk scores: From tool to practice.
Q1:
24/12/1986, Paris
Q2:
I am a PhD student at École polytechnique fédérale de Lausanne in Jacques Fellay’s lab.
Q3:
Initially to be at the interface between biology and computer science, now to foster a genomic-based personalized medicine
Q4:
We introduce a strategy to improve the performance of genomic predictions, specifically for people underrepresented in genetic studies.
24/12/1986, Paris
Q2:
I am a PhD student at École polytechnique fédérale de Lausanne in Jacques Fellay’s lab.
Q3:
Initially to be at the interface between biology and computer science, now to foster a genomic-based personalized medicine
Q4:
We introduce a strategy to improve the performance of genomic predictions, specifically for people underrepresented in genetic studies.
Oliver will speak about “Using reference-fixed principal components to improve polygenic risk score prediction” in the session C30 Polygenic risk scores: From tool to practice.
Q1:
1991.03.24 / Bucaramanga
Q2:
Postdoctoral researcher at the Max Planck for Molecular Genetics, Berlin
Q3:
First intrigued by my family origins, then a career in genetics. Since I realized the information physically encoded in our DNA has the potential to reconstruct our past, explain our diseases, and even augur our future, I have embarked on the genetics endeavor, from the bench to the dry-lab.
Q4:
We functionally characterized over a thousand of disease-causing candidate genes by building a single-cell transcriptomics reference atlas of limb development. Although extensive DNA sequencing studies on congenital limb malformation have cataloged hundreds of candidate genes, few variants have been functionally characterized. Mostly because of the vast number of these candidate genes makes traditional functional studies almost impossible. Using this high throughput approach, we identified developmental gene expression patterns of candidate genes that might represent general pathological mechanisms of congenital limb malformation.
1991.03.24 / Bucaramanga
Q2:
Postdoctoral researcher at the Max Planck for Molecular Genetics, Berlin
Q3:
First intrigued by my family origins, then a career in genetics. Since I realized the information physically encoded in our DNA has the potential to reconstruct our past, explain our diseases, and even augur our future, I have embarked on the genetics endeavor, from the bench to the dry-lab.
Q4:
We functionally characterized over a thousand of disease-causing candidate genes by building a single-cell transcriptomics reference atlas of limb development. Although extensive DNA sequencing studies on congenital limb malformation have cataloged hundreds of candidate genes, few variants have been functionally characterized. Mostly because of the vast number of these candidate genes makes traditional functional studies almost impossible. Using this high throughput approach, we identified developmental gene expression patterns of candidate genes that might represent general pathological mechanisms of congenital limb malformation.
Cesar will speak about “Transcriptional single-cell atlas of human limb malformation candidate genes” in the session C29 Skin & Bones.
Q1:
2nd September 1989, Melbourne, Australia
Q2:
Postdoctoral Researcher at the Cambridge Baker Systems Genomics Initiative, University of Cambridge
Q3:
My interest in genetics was sparked during my undergraduate when I had become interested in machine learning and was introduced to Bioinformatics. During my PhD I became interested in the polygenic nature of common diseases, particularly how myriad small genetic effects might perturb biological networks to modify disease risk.
Q4:
We explore the utility of polygenic risk scores, which quantify these myriad small genetic disease associations in aggregate, for “polygenic association studies” to identify biomolecules and pathways involved in disease development. By measuring associations with a measure of total genetic predisposition to disease, rather than with single loci, we are able to identify novel disease targets for follow-up.
2nd September 1989, Melbourne, Australia
Q2:
Postdoctoral Researcher at the Cambridge Baker Systems Genomics Initiative, University of Cambridge
Q3:
My interest in genetics was sparked during my undergraduate when I had become interested in machine learning and was introduced to Bioinformatics. During my PhD I became interested in the polygenic nature of common diseases, particularly how myriad small genetic effects might perturb biological networks to modify disease risk.
Q4:
We explore the utility of polygenic risk scores, which quantify these myriad small genetic disease associations in aggregate, for “polygenic association studies” to identify biomolecules and pathways involved in disease development. By measuring associations with a measure of total genetic predisposition to disease, rather than with single loci, we are able to identify novel disease targets for follow-up.
Scott will speak about “Integrative analysis of the plasma proteome and polygenic risk of cardiometabolic disease” in the session C30 Polygenic risk scores: From tool to practice.
Q1:
Born in 1988 in Dorset, UK
Q2:
MD/PhD Student
Q3:
Genetics underpins medicine; it does not discriminate by speciality and is important for everyone. The pace at which it is advancing and incorporating the latest technologies is unrivalled. I cannot think of a more exciting nor fulfilling speciality to work in during my scientific and medical career.
Q4:
My research provides a new and simple method to uplift rare disease diagnostics and discover new disease genes by circumventing the many computational challenges of vast data analysis. This has the potential to impact many patients, their families and the wider scientific community, and provide a list of candidates to prioritise for functional collaboration and therapeutic targets.
Born in 1988 in Dorset, UK
Q2:
MD/PhD Student
Q3:
Genetics underpins medicine; it does not discriminate by speciality and is important for everyone. The pace at which it is advancing and incorporating the latest technologies is unrivalled. I cannot think of a more exciting nor fulfilling speciality to work in during my scientific and medical career.
Q4:
My research provides a new and simple method to uplift rare disease diagnostics and discover new disease genes by circumventing the many computational challenges of vast data analysis. This has the potential to impact many patients, their families and the wider scientific community, and provide a list of candidates to prioritise for functional collaboration and therapeutic targets.
Eleanor will speak about “A bespoke gene-to-patient approach uplifts novel gene discovery for rare disease diagnostics” in the session C26 New Technologies and Approaches.