The ESHG is proud to announce this year’s winners:
Young Investigator Poster Awards, Honorary mentions:
– Mariël Teunissen, NL
– Hila Fridman, IL
– Elena Bernabeu, UK
– Shuang Li, NL
– Paria Torbati, IR
– Best Poster in Basic Research: Anouk Verboven, NL
– Best Poster in Clinical Research: Sabrina Mechaussier, FR
Congratulations!
The ESHG proposes the ESHG Poster Awards for the best posters presented by Young Investigators at the meeting. The two winners (one in clinical, the other in basic research) will receive prize money of EUR 500, a complementary ESHG online membership for one year as well as a free particpation in next year’s conference.
The five honorable mentions receive a complementary ESHG online membership for one year.
The ESHG Scientific Programme Committee has selected a number of candidates for the ESHG Poster Award based on the score of their submission after peer review. Candidate posters can be identified in seperate section on the virtual platform.
The nominee is the first author (i.e. presenting author) of the presented abstract, pre- or post-doctoral (not more than 4 years after PhD/MD).
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?
Q1:
30-07-1980, Kerala, India v
Q2:
PhD Student
Q3:
I started my research career by analyzing the exome data from rare disease patients. I was fascinated how identification of causative genes can help in diagnosing and also sometimes correcting the initial diagnosis of an affected individual, the scenario we often see in rare disease cohort. This prompted me to continue my research career in genetics. I started my research career by analyzing the exome data from rare disease patients. I was fascinated how identification of causative genes can help in diagnosing and also sometimes correcting the initial diagnosis of an affected individual, the scenario we often see in rare disease cohort. This prompted me to continue my research career in genetics.
Q4:
In this research study we are using exome sequencing to delineate the molecular mechanism underlying a cohort of mainly consanguineous laterality disorder patients. Laterality disorder can occur isolated or as part of the syndrome. After exome analysis we identified causative genes for 32% of families of which majority of them are associated with PCD, a motile cilia disorder where patients are often presented with recurrent respiratory tract infections. We also identified two novel laterality disorder genes, DNAH9 and MNS1 which causes a very mild or no respiratory phenotype. We then did functional studies to characterize these two novel genes and also establish their role in left right axis determination in humans.
30-07-1980, Kerala, India v
Q2:
PhD Student
Q3:
I started my research career by analyzing the exome data from rare disease patients. I was fascinated how identification of causative genes can help in diagnosing and also sometimes correcting the initial diagnosis of an affected individual, the scenario we often see in rare disease cohort. This prompted me to continue my research career in genetics. I started my research career by analyzing the exome data from rare disease patients. I was fascinated how identification of causative genes can help in diagnosing and also sometimes correcting the initial diagnosis of an affected individual, the scenario we often see in rare disease cohort. This prompted me to continue my research career in genetics.
Q4:
In this research study we are using exome sequencing to delineate the molecular mechanism underlying a cohort of mainly consanguineous laterality disorder patients. Laterality disorder can occur isolated or as part of the syndrome. After exome analysis we identified causative genes for 32% of families of which majority of them are associated with PCD, a motile cilia disorder where patients are often presented with recurrent respiratory tract infections. We also identified two novel laterality disorder genes, DNAH9 and MNS1 which causes a very mild or no respiratory phenotype. We then did functional studies to characterize these two novel genes and also establish their role in left right axis determination in humans.
Q1:
16/7/1994, Valencia, Spain
Q2:
PhD student at The Roslin Institute, The University of Edinburgh
Q3:
Ever since I came across the concepts of inheritance and genetics in Science class when I was 13, I’ve been fascinated the mysteries of our genetic programming. The understanding of how combinations of 4 bases can lead to life as we know it is something that I hope to contribute to with my research, whatever that may be!
Q4:
At the conference I’ll be talking about my work looking at differences in genetic architecture between males and females, or, in other words, how our sex can influence our shared genetic variation in the programming of human traits. Sex is a variable that is many times overlooked in population genetics studies, and it could be acting in unexpected ways in combination with our genome, which is why studies like these are key to garner knowledge into potential underlying sex-specific mechanisms!
16/7/1994, Valencia, Spain
Q2:
PhD student at The Roslin Institute, The University of Edinburgh
Q3:
Ever since I came across the concepts of inheritance and genetics in Science class when I was 13, I’ve been fascinated the mysteries of our genetic programming. The understanding of how combinations of 4 bases can lead to life as we know it is something that I hope to contribute to with my research, whatever that may be!
Q4:
At the conference I’ll be talking about my work looking at differences in genetic architecture between males and females, or, in other words, how our sex can influence our shared genetic variation in the programming of human traits. Sex is a variable that is many times overlooked in population genetics studies, and it could be acting in unexpected ways in combination with our genome, which is why studies like these are key to garner knowledge into potential underlying sex-specific mechanisms!
Q1:
22nd of March, 1993 in Dublin, Ireland.
Q2:
PhD Student in the Complex Traits Genomics group, Trinity College Dublin.
Q3:
The field of human genetics is growing rapidly in exciting ways and I want to be involved in this growth. I see huge potential in the emerging wealth of genomic data and novel methods for answering important questions about human population history and the genetic architecture of complex traits.
Q4:
Our research found that principal components from haplotype sharing matrices identified fine-scale population structure in a large GWAS dataset that was undetectable using standard SNP based PCA. Fitting these haplotypic PCs as covariates in a GWAS lowered inflation due to population stratification while retaining power to detect significant loci.
22nd of March, 1993 in Dublin, Ireland.
Q2:
PhD Student in the Complex Traits Genomics group, Trinity College Dublin.
Q3:
The field of human genetics is growing rapidly in exciting ways and I want to be involved in this growth. I see huge potential in the emerging wealth of genomic data and novel methods for answering important questions about human population history and the genetic architecture of complex traits.
Q4:
Our research found that principal components from haplotype sharing matrices identified fine-scale population structure in a large GWAS dataset that was undetectable using standard SNP based PCA. Fitting these haplotypic PCs as covariates in a GWAS lowered inflation due to population stratification while retaining power to detect significant loci.
Q1:
25/11/1994 – Eeklo (Belgium)
Q2:
At the moment I am a PhD student in the lab of Elfride De Baere and Kris Vleminckx at Ghent University.
Q3:
I conducted my master thesis at the human genetics lab of Elfride De Baere. There I fell in love with genetics, your genetic code is the starting point of everything. The complexity and all the unsolved matter intrigued me. Because I didn’t want my master thesis to be my end in genetics I started a PhD, which I don’t regret for a moment.
Q4:
The function of the disease gene RCBTB1 is mainly unknown. We are using Xenopus tropicalis to model RCBTB1-mediated retinal disease and to assess the (disease) mechanism of RCBTB1. With my research I want to show the utility of Xenopus as animal model for disease modelling and contribute to unravelling the disease mechanism which could also have an impact understanding other retinal disease mechanisms.
25/11/1994 – Eeklo (Belgium)
Q2:
At the moment I am a PhD student in the lab of Elfride De Baere and Kris Vleminckx at Ghent University.
Q3:
I conducted my master thesis at the human genetics lab of Elfride De Baere. There I fell in love with genetics, your genetic code is the starting point of everything. The complexity and all the unsolved matter intrigued me. Because I didn’t want my master thesis to be my end in genetics I started a PhD, which I don’t regret for a moment.
Q4:
The function of the disease gene RCBTB1 is mainly unknown. We are using Xenopus tropicalis to model RCBTB1-mediated retinal disease and to assess the (disease) mechanism of RCBTB1. With my research I want to show the utility of Xenopus as animal model for disease modelling and contribute to unravelling the disease mechanism which could also have an impact understanding other retinal disease mechanisms.
Q1:
1988.08.18, Ningbo, Zhejiang Province, China
Q2:
Ph.D. Student
Q3:
Focusing on causative gene identification study in movement disorders. These studies will help me do better in future clinical work.
Q4:
The research I will present at the conference identified a novel causative gene for primary familial brain calcification.
1988.08.18, Ningbo, Zhejiang Province, China
Q2:
Ph.D. Student
Q3:
Focusing on causative gene identification study in movement disorders. These studies will help me do better in future clinical work.
Q4:
The research I will present at the conference identified a novel causative gene for primary familial brain calcification.
Q1:
10.12.1988 – Cividale Del Friuli (Italy)
Q2:
PhD student
Q3:
Because probably nothing more than genetics represent the legacy from our past but also the bequest to our future.
Q4:
It’s a challenge to the odds how exactly the same de novo SNV of a novel gene causes a novel disease in different families.
10.12.1988 – Cividale Del Friuli (Italy)
Q2:
PhD student
Q3:
Because probably nothing more than genetics represent the legacy from our past but also the bequest to our future.
Q4:
It’s a challenge to the odds how exactly the same de novo SNV of a novel gene causes a novel disease in different families.
Q1:
28.3.1984; Lod, Israel
Q2:
I’m a Ph.D. candidate at the Hebrew University (Jerusalem, Israel) and a certified genetic counselor.
Q3:
I was drawn to this world ever since I was young. I was amazed by the DNA molecule from the first time I saw it.
Q4:
We are answering a question that every clinical geneticist askes his/herself- how many recessive pathogenic mutations do we carry, and what is our risk for an affected child?
28.3.1984; Lod, Israel
Q2:
I’m a Ph.D. candidate at the Hebrew University (Jerusalem, Israel) and a certified genetic counselor.
Q3:
I was drawn to this world ever since I was young. I was amazed by the DNA molecule from the first time I saw it.
Q4:
We are answering a question that every clinical geneticist askes his/herself- how many recessive pathogenic mutations do we carry, and what is our risk for an affected child?
Q1:
April 13, 1988 Baltimore, Maryland, USA
Q2:
Postdoctoral Fellow at the Wellcome Sanger Institute
Q3:
Since my childhood I have been fascinated with the natural world. As I progressed through university, I found that genetics combined by love of technology with the puzzle of biology. I’ve been hooked ever since.
Q4:
We present our findings on how sexual selection through mate choice shapes the genetic architecture of the human genome. Specifically, we show how males, much more than females, with rare genetic variants that disrupt the function of constrained genes are more likely to be childless. While sexual selection via mate choice has been offered as an explanation for sexually dimorphic traits in many species since the time of Charles Darwin, a genetic underpinning for such a mode of selection in humans has yet to be demonstrated.
April 13, 1988 Baltimore, Maryland, USA
Q2:
Postdoctoral Fellow at the Wellcome Sanger Institute
Q3:
Since my childhood I have been fascinated with the natural world. As I progressed through university, I found that genetics combined by love of technology with the puzzle of biology. I’ve been hooked ever since.
Q4:
We present our findings on how sexual selection through mate choice shapes the genetic architecture of the human genome. Specifically, we show how males, much more than females, with rare genetic variants that disrupt the function of constrained genes are more likely to be childless. While sexual selection via mate choice has been offered as an explanation for sexually dimorphic traits in many species since the time of Charles Darwin, a genetic underpinning for such a mode of selection in humans has yet to be demonstrated.
Q1:
4th November, 1989; Mansa, Punjab, India
Q2:
PhD student at Kasturba Medical College, Manipal, India
Q3:
My fascination with genetics started in high school when we were introduced to Mendel’s work. During my nursing training, I came across families with probable genetic disorders which remained undiagnosed due to limited resources. Thereafter, my postgraduate training gave further insights into genomics of human disease. However, it was during an internship at KMC, Manipal, that I was able to appreciate the value of applied genetics as a direct benefit to families with rare Mendelian disorders. The opportunity to help these families, along with the continuous excitement brought by the rapid advances in genetics, guided me into pursuing my doctoral studies in the subject.
Q4:
Inherited white matter disorders (IMWD) are highly heterogeneous rare Mendelian disorders. At least four-hundred-sixty monogenic conditions, three chromosomal conditions and eight microdeletion/duplication syndromes have been described with white matter abnormalities. Evaluation of these disorders using high throughput techniques has led to rapid diagnosis and discovery of several novel disease-gene associations. Though we have gained significant insight into genetic etiology of these disorders, understanding of pathomechanisms and therapy remains limited. Our research provides an update on the current advances in etiological knowledge, classifications, diagnosis, and prognosis of IWMD. It also describes the clinical, radiological and genomic findings in an Indian cohort of individuals with IWMD including three novel phenotype-genotype associations.
4th November, 1989; Mansa, Punjab, India
Q2:
PhD student at Kasturba Medical College, Manipal, India
Q3:
My fascination with genetics started in high school when we were introduced to Mendel’s work. During my nursing training, I came across families with probable genetic disorders which remained undiagnosed due to limited resources. Thereafter, my postgraduate training gave further insights into genomics of human disease. However, it was during an internship at KMC, Manipal, that I was able to appreciate the value of applied genetics as a direct benefit to families with rare Mendelian disorders. The opportunity to help these families, along with the continuous excitement brought by the rapid advances in genetics, guided me into pursuing my doctoral studies in the subject.
Q4:
Inherited white matter disorders (IMWD) are highly heterogeneous rare Mendelian disorders. At least four-hundred-sixty monogenic conditions, three chromosomal conditions and eight microdeletion/duplication syndromes have been described with white matter abnormalities. Evaluation of these disorders using high throughput techniques has led to rapid diagnosis and discovery of several novel disease-gene associations. Though we have gained significant insight into genetic etiology of these disorders, understanding of pathomechanisms and therapy remains limited. Our research provides an update on the current advances in etiological knowledge, classifications, diagnosis, and prognosis of IWMD. It also describes the clinical, radiological and genomic findings in an Indian cohort of individuals with IWMD including three novel phenotype-genotype associations.
Q1:
Date: 03-31-1994 City: Nanchang City, Jiangxi Province, China
Q2:
Ph.D. candidate in the Genetics Department, Genomics Coordination Center, University Medical Center Groningen, the Netherlands
Q3:
I’m passionate about the relationship between genetics and human diseases. Hopefully my research could contribute to better and faster diagnosis of genetic diseases.
Q4:
In this study we have created a co-methylation network using 30k public 450k Illumina methylation assays from various tissues and cell types. We systematically identified associations between the methylation sites to gene expression values and examined the tissue-specificity of the identified associations. By comparing the co-methylation network with a co-expression network via the identified associations, we present that methylation data presents orthogonal biological information.
Date: 03-31-1994 City: Nanchang City, Jiangxi Province, China
Q2:
Ph.D. candidate in the Genetics Department, Genomics Coordination Center, University Medical Center Groningen, the Netherlands
Q3:
I’m passionate about the relationship between genetics and human diseases. Hopefully my research could contribute to better and faster diagnosis of genetic diseases.
Q4:
In this study we have created a co-methylation network using 30k public 450k Illumina methylation assays from various tissues and cell types. We systematically identified associations between the methylation sites to gene expression values and examined the tissue-specificity of the identified associations. By comparing the co-methylation network with a co-expression network via the identified associations, we present that methylation data presents orthogonal biological information.
Q1:
13th June 1993, Bourg-en-Bresse (France)
Q2:
PhD student at the Laboratory of Genetics in Ophthalmology (LGO), Imagine Institute, Paris.
Q3:
Genetics, and specifically human genetics is a fascinating discipline, and I have always had a strong interest in research and understanding complex mechanisms leading to rare diseases. Correlating, clinical features of patients and genetic data, helps to understand the molecular interactions involved in these diseases and to bring out new mutated genes. Even if genetic technologies are in perpetual evolution, many genes haven’t been described and lots of patients don’t have exact diagnosis of their disease. Investigation of physiopathological mechanisms and discovery of new genes are, for me, the most motivating aspects of this field.
Q4:
The rare genetic disease I work on is Leber congenital amaurosis (LCA). Recently, exome sequencing allowed us to identify the RIMS2 gene, encoding a pre-synaptic protein, as a novel syndromic gene for disorder of synaptic and pancreatic vesicle liberation, not yet associated with human disease. Thanks to the clinical reevaluation of affected individuals, we confirmed an unreported association of Cone Rod Synaptic Disorder (CRSD), can be mistaken for LCA, with a neurodevelopmental and pancreatic involvement. This study participates in the elaboration of genotype/phenotype correlation allowing a diagnostic readjustment for a better patients care.
13th June 1993, Bourg-en-Bresse (France)
Q2:
PhD student at the Laboratory of Genetics in Ophthalmology (LGO), Imagine Institute, Paris.
Q3:
Genetics, and specifically human genetics is a fascinating discipline, and I have always had a strong interest in research and understanding complex mechanisms leading to rare diseases. Correlating, clinical features of patients and genetic data, helps to understand the molecular interactions involved in these diseases and to bring out new mutated genes. Even if genetic technologies are in perpetual evolution, many genes haven’t been described and lots of patients don’t have exact diagnosis of their disease. Investigation of physiopathological mechanisms and discovery of new genes are, for me, the most motivating aspects of this field.
Q4:
The rare genetic disease I work on is Leber congenital amaurosis (LCA). Recently, exome sequencing allowed us to identify the RIMS2 gene, encoding a pre-synaptic protein, as a novel syndromic gene for disorder of synaptic and pancreatic vesicle liberation, not yet associated with human disease. Thanks to the clinical reevaluation of affected individuals, we confirmed an unreported association of Cone Rod Synaptic Disorder (CRSD), can be mistaken for LCA, with a neurodevelopmental and pancreatic involvement. This study participates in the elaboration of genotype/phenotype correlation allowing a diagnostic readjustment for a better patients care.
Q1:
Barcelona, 22.11.1994
Q2:
PhD student
Q3:
In general, I am interested in common complex diseases in the human population and how genetics can lead to applied clinical solutions. In the future, I would like to focus my research on the genetics of maternal phenotypes and pregnancy-related diseases.
Q4:
I am developing a new Bayesian method that utilises both genomic annotations and very large-scale genomic data to investigate genetic architectures underlying complex diseases. This method determines which genomic regions are most influential, improving disease risk prediction, and can be applied to many common complex traits.
Barcelona, 22.11.1994
Q2:
PhD student
Q3:
In general, I am interested in common complex diseases in the human population and how genetics can lead to applied clinical solutions. In the future, I would like to focus my research on the genetics of maternal phenotypes and pregnancy-related diseases.
Q4:
I am developing a new Bayesian method that utilises both genomic annotations and very large-scale genomic data to investigate genetic architectures underlying complex diseases. This method determines which genomic regions are most influential, improving disease risk prediction, and can be applied to many common complex traits.
Q1:
2 June 1995, Singapore
Q2:
I am currently a first-year PhD student at the Institute of Translational Genomics at Helmholtz Zentrum Munich.
Q3:
Genetics is fun to think about. I always find it amusing how the basis of diseases plaguing millions around the world, can be unearthed from strings of letters.
Genomics as a relatively young scientific field was also attractive to me because of how quickly it was developing and how much has yet to be uncovered. I believe that genomics is the future of medicine, and I would like to be part of that.
Q4:
Proteins act as important proxies for the discovery of neurological disease biomarkers. I will be presenting the results of the first whole genome sequencing-based pQTL study of 184 neurological proteins from ~3000 samples, of which 34 proteins have not been previously studied. In addition to novel proteins, I report novel pQTLs comprising both common and rare variants, deepening understanding of the genetic architecture underlying these proteins. Finally, I also identify potential causal protein biomarkers of complex neurological diseases that may be translated into clinical applications such as drug repurposing or risk prediction.
2 June 1995, Singapore
Q2:
I am currently a first-year PhD student at the Institute of Translational Genomics at Helmholtz Zentrum Munich.
Q3:
Genetics is fun to think about. I always find it amusing how the basis of diseases plaguing millions around the world, can be unearthed from strings of letters.
Genomics as a relatively young scientific field was also attractive to me because of how quickly it was developing and how much has yet to be uncovered. I believe that genomics is the future of medicine, and I would like to be part of that.
Q4:
Proteins act as important proxies for the discovery of neurological disease biomarkers. I will be presenting the results of the first whole genome sequencing-based pQTL study of 184 neurological proteins from ~3000 samples, of which 34 proteins have not been previously studied. In addition to novel proteins, I report novel pQTLs comprising both common and rare variants, deepening understanding of the genetic architecture underlying these proteins. Finally, I also identify potential causal protein biomarkers of complex neurological diseases that may be translated into clinical applications such as drug repurposing or risk prediction.
Q1:
22.06.1988, Schwerin, Germany
Q2:
Postdoctoral researcher
Q3:
As a mathematician by training, I really enjoyed the application of statistical approaches during my PhD in Bioinformatics. Pursuing a career in genetics means to me, that I can channel my passion for Mathematics into tackling meaningful problems, and have an actual impact on the advances in medical genomics.
Q4:
We know that the human genome can be partitioned into domains of regulation, but their variation across time is still poorly understood. Our longitudinal twin data set allows us to determine the temporal dynamics of regulatory domains and their underlying genetic bases, while assessing both the genetic and environmental influences.
22.06.1988, Schwerin, Germany
Q2:
Postdoctoral researcher
Q3:
As a mathematician by training, I really enjoyed the application of statistical approaches during my PhD in Bioinformatics. Pursuing a career in genetics means to me, that I can channel my passion for Mathematics into tackling meaningful problems, and have an actual impact on the advances in medical genomics.
Q4:
We know that the human genome can be partitioned into domains of regulation, but their variation across time is still poorly understood. Our longitudinal twin data set allows us to determine the temporal dynamics of regulatory domains and their underlying genetic bases, while assessing both the genetic and environmental influences.
Q1:
16.04.92 in Erfurt, Germany
Q2:
I am PhD student in Bioinformatics and Machine Learning at the Berlin Institute of Health and Charite in Berlin, Germany
Q3:
Since hearing first about it, I was always fascinated about the possibilities of synthetic biology in creating biological machines. As I learned as those techniques were and are relatively limited, I am currently focusing on understanding gene regulation better in order to enable better future understanding and apply these principles to create new medical and technical approaches.
Q4:
CADD is a widely used framework to score genomic variants in order to find disease causal mutations. Here I present the latest update to CADD that improves the detection of splicing variants unbiased through the human genome. Beyond the progress in actual application, this is interesting as it serves as a prime example how progress in artificial intelligence and deep learning can improve medical decision making by incorporating knowledge over various biological domains.
16.04.92 in Erfurt, Germany
Q2:
I am PhD student in Bioinformatics and Machine Learning at the Berlin Institute of Health and Charite in Berlin, Germany
Q3:
Since hearing first about it, I was always fascinated about the possibilities of synthetic biology in creating biological machines. As I learned as those techniques were and are relatively limited, I am currently focusing on understanding gene regulation better in order to enable better future understanding and apply these principles to create new medical and technical approaches.
Q4:
CADD is a widely used framework to score genomic variants in order to find disease causal mutations. Here I present the latest update to CADD that improves the detection of splicing variants unbiased through the human genome. Beyond the progress in actual application, this is interesting as it serves as a prime example how progress in artificial intelligence and deep learning can improve medical decision making by incorporating knowledge over various biological domains.
Q1:
January 23, 1986. Aalborg, Denmark
Q2:
Currently I’m in a postdoctoral position at Aalborg University, Denmark. Last year I was so fortunate to receive a three-year postdoc grant from the Lundbeck Foundation.
Q3:
Natural science has always interested me, and for me is genetics fundamental for understanding our complex world. Genetics is a cross-disciplinary field and gives us the possibly to work across many different types of scientific disciplines and incorporate a vast amount of different data types into our models. That I find very interesting!
Q4:
Modern sequencing techniques and computational facilities allow us to efficiently combine DNA information with electronic health records of thousands of individuals. This allow us to ask complex questions like why patients with the same medical diagnosis respond differently to the same medicine. Here I show that medication-use per se is a complex trait as BMI. This is important for future implementation of personalised medicine within clinics.
January 23, 1986. Aalborg, Denmark
Q2:
Currently I’m in a postdoctoral position at Aalborg University, Denmark. Last year I was so fortunate to receive a three-year postdoc grant from the Lundbeck Foundation.
Q3:
Natural science has always interested me, and for me is genetics fundamental for understanding our complex world. Genetics is a cross-disciplinary field and gives us the possibly to work across many different types of scientific disciplines and incorporate a vast amount of different data types into our models. That I find very interesting!
Q4:
Modern sequencing techniques and computational facilities allow us to efficiently combine DNA information with electronic health records of thousands of individuals. This allow us to ask complex questions like why patients with the same medical diagnosis respond differently to the same medicine. Here I show that medication-use per se is a complex trait as BMI. This is important for future implementation of personalised medicine within clinics.
Q1:
08-08-1990 – Domodossola (VB), Italy
Q2:
Phd student (Viva passed, graduation at the next possible date), Oxford, UK
Reseach assistant in Lausanne, Switzeland
Q3:
Mainly I was fascinated by the complex problems that arise from this field and the brilliant models that have been used to solve these problems.
The interdisciplinarity of genetics maily attracted me into this field!
Q4:
Low coverage sequencing imputation has been unfeasible or very limited so far, mainly for computational reasons.
We now overcome this limitation proposing a new method that allows imputation and phasing of extremely low-coverage datasets more accurate than all other methods available, proposing a switch in the data generation process.
08-08-1990 – Domodossola (VB), Italy
Q2:
Phd student (Viva passed, graduation at the next possible date), Oxford, UK
Reseach assistant in Lausanne, Switzeland
Q3:
Mainly I was fascinated by the complex problems that arise from this field and the brilliant models that have been used to solve these problems.
The interdisciplinarity of genetics maily attracted me into this field!
Q4:
Low coverage sequencing imputation has been unfeasible or very limited so far, mainly for computational reasons.
We now overcome this limitation proposing a new method that allows imputation and phasing of extremely low-coverage datasets more accurate than all other methods available, proposing a switch in the data generation process.
Q1:
October 30, 1989, Lucknow, India
Q2:
Research scholar
Q3:
I have keen interest in understanding the genetic basis of human disorders in order to gain insights into therapeutics and prenatal/early diagnosis.
Q4:
I am excited to present the effects of overexpression of DNA methyltransferase1 on various Schizophrenia-associated genes in the context of abnormal neurogenesis.
October 30, 1989, Lucknow, India
Q2:
Research scholar
Q3:
I have keen interest in understanding the genetic basis of human disorders in order to gain insights into therapeutics and prenatal/early diagnosis.
Q4:
I am excited to present the effects of overexpression of DNA methyltransferase1 on various Schizophrenia-associated genes in the context of abnormal neurogenesis.
Q1:
02-06-1989; ‘s-Hertogenbosch
Q2:
I’m a joint PhD student with the University of Southampton and the UMC Groningen and a junior doctor in Clinical Genetics at the UMC Utrecht
Q3:
A career in genetics enables me to combine my passion for research, clinical work with patients and thinking about the broader ethical and societal issues relevant for clinical genetics. I am particularly interested in research regarding the introduction of technology around reproductive genetics and looking at the issues from an interdisciplinary perspective.
Q4:
This research in a pilot setting demonstrates that introducing couple-based ECS for a limited set of severe recessive conditions to the general population by non-genetics health professionals could be a responsible approach as set out by the 2016 ESHG recommendations. The outcomes of this research are relevant for current large scale implementation of ECS in various health care settings.
02-06-1989; ‘s-Hertogenbosch
Q2:
I’m a joint PhD student with the University of Southampton and the UMC Groningen and a junior doctor in Clinical Genetics at the UMC Utrecht
Q3:
A career in genetics enables me to combine my passion for research, clinical work with patients and thinking about the broader ethical and societal issues relevant for clinical genetics. I am particularly interested in research regarding the introduction of technology around reproductive genetics and looking at the issues from an interdisciplinary perspective.
Q4:
This research in a pilot setting demonstrates that introducing couple-based ECS for a limited set of severe recessive conditions to the general population by non-genetics health professionals could be a responsible approach as set out by the 2016 ESHG recommendations. The outcomes of this research are relevant for current large scale implementation of ECS in various health care settings.
Q1:
05.02.1990, Poznan, Poland
Q2:
PhD candidate at the Institute of Human Genetics of the Polish Academy of Sciences, Poznan, Poland
Intern within the EMBO Short-Term Fellowship at Department of Epidemiology and Department of Ophthalmology, Erasmus Medical Center, Rotterdam, Netherlands
Q3:
My interest in genetics, biology, and medical sciences started at high school, so to combine them I studied Biotechnology, specialty in Genetic diagnostics. Now, I am glad to conduct basic genetic and epigenetic research leading to better knowledge on the pathogenesis of eye disorders such as myopia (nearsightedness).
Q4:
We indicated enhancers, cis-regulatory elements regulating gene expression, with putative target genes that could explain significant loci from previous genome-wide association studies (Europeans and Asians from CREAM and 23andMe) on myopia related phenotypes. Our findings suggest that regulatory regions as enhancers play a role in myopia, a complex genetic trait.
05.02.1990, Poznan, Poland
Q2:
PhD candidate at the Institute of Human Genetics of the Polish Academy of Sciences, Poznan, Poland
Intern within the EMBO Short-Term Fellowship at Department of Epidemiology and Department of Ophthalmology, Erasmus Medical Center, Rotterdam, Netherlands
Q3:
My interest in genetics, biology, and medical sciences started at high school, so to combine them I studied Biotechnology, specialty in Genetic diagnostics. Now, I am glad to conduct basic genetic and epigenetic research leading to better knowledge on the pathogenesis of eye disorders such as myopia (nearsightedness).
Q4:
We indicated enhancers, cis-regulatory elements regulating gene expression, with putative target genes that could explain significant loci from previous genome-wide association studies (Europeans and Asians from CREAM and 23andMe) on myopia related phenotypes. Our findings suggest that regulatory regions as enhancers play a role in myopia, a complex genetic trait.
Q1:
13/8/1997 – Torbat -e- Heydariyeh, Iran
Q2:
I am working at Dr Ehsan Ghayoor Karimiani’s lab ,Next Generation Genetic clinic, as research assistant in Mashhad, Iran.
Q3:
As an undergraduate student, I have a strong interest in human genetics, after completing my first genetics course. I intrested in rare neurogenetic disorders, As I became more familiar with the rare diseases and neurogenetic disorders, I increased my studies and researches in this field and try to fallow them up. My questions were so important to me that brought me to the work every day .
Q4:
My study was about a rare hereditary neuropatihy disorder due to impaired Vitamin B6 metabolism it became clear that the disease has a a rare opportunity for treatment. We show that the variant leads to reduced PDXK enzymatic activity with low PLP and We recommend that patients presenting with autosomal recessive childhood-onset axonal neuropathy and optic atrophy should be screened for PDXK mutations, as a opportunity for treatment.
13/8/1997 – Torbat -e- Heydariyeh, Iran
Q2:
I am working at Dr Ehsan Ghayoor Karimiani’s lab ,Next Generation Genetic clinic, as research assistant in Mashhad, Iran.
Q3:
As an undergraduate student, I have a strong interest in human genetics, after completing my first genetics course. I intrested in rare neurogenetic disorders, As I became more familiar with the rare diseases and neurogenetic disorders, I increased my studies and researches in this field and try to fallow them up. My questions were so important to me that brought me to the work every day .
Q4:
My study was about a rare hereditary neuropatihy disorder due to impaired Vitamin B6 metabolism it became clear that the disease has a a rare opportunity for treatment. We show that the variant leads to reduced PDXK enzymatic activity with low PLP and We recommend that patients presenting with autosomal recessive childhood-onset axonal neuropathy and optic atrophy should be screened for PDXK mutations, as a opportunity for treatment.
Q1:
November 4th, 1992, Veldhoven
Q2:
PhD student (4th year)
Q3:
I was introduced to the field of genetics during my master internships at UCLA and the VU in Amsterdam, which gave me the chance to work with top researchers in the field. Combined with the exciting recent advances in genetic technologies such as CRISPR/Cas9, omics approaches and use of iPSC-derived models, this motivated me to do a PhD in genetics.
Q4:
My research is aimed at bridging the gap between a genotype and its associated phenotype, in the context of neurodevelopmental disorders. We link transcriptomic changes in iPSC-derived neurons from patients with Koolen-de Vries Syndrome directly to their network phenotype, providing insight in mechanisms underlying neuronal network dysfunction caused by loss-of-function of KANSL1.
November 4th, 1992, Veldhoven
Q2:
PhD student (4th year)
Q3:
I was introduced to the field of genetics during my master internships at UCLA and the VU in Amsterdam, which gave me the chance to work with top researchers in the field. Combined with the exciting recent advances in genetic technologies such as CRISPR/Cas9, omics approaches and use of iPSC-derived models, this motivated me to do a PhD in genetics.
Q4:
My research is aimed at bridging the gap between a genotype and its associated phenotype, in the context of neurodevelopmental disorders. We link transcriptomic changes in iPSC-derived neurons from patients with Koolen-de Vries Syndrome directly to their network phenotype, providing insight in mechanisms underlying neuronal network dysfunction caused by loss-of-function of KANSL1.
Q1:
10 November 1988, Drama, Greece
Q2:
Senior Research Scientist at AstraZeneca
Q3:
My original training has been in electrical engineering and computer science. However, I was quite soon fascinated by the wealth and complexity of problems in biological sciences and especially in genetics. For the past 4 years, I’ve been working on the intersection of machine learning and genetics, developing novel methods to harvest the information residing in our genome.
Q4:
JARVIS, the deep learning-based method I’m presenting, helps us better understand the importance of non-coding regions and extract benefits for drug development. The critical part of JARVIS is the integration of only human lineage-specific information, yet performing comparably or better than state-of-the-art conservation-based scores. This may enable us to pinpoint more likely human-relevant drug targets.
10 November 1988, Drama, Greece
Q2:
Senior Research Scientist at AstraZeneca
Q3:
My original training has been in electrical engineering and computer science. However, I was quite soon fascinated by the wealth and complexity of problems in biological sciences and especially in genetics. For the past 4 years, I’ve been working on the intersection of machine learning and genetics, developing novel methods to harvest the information residing in our genome.
Q4:
JARVIS, the deep learning-based method I’m presenting, helps us better understand the importance of non-coding regions and extract benefits for drug development. The critical part of JARVIS is the integration of only human lineage-specific information, yet performing comparably or better than state-of-the-art conservation-based scores. This may enable us to pinpoint more likely human-relevant drug targets.