Corinne Antignac is a
Area(s) of research:
Corinne Antignac will be giving a talk about “xxx” on Sunday, June xx.
Carla Hollak Professor
Carla Hollak is a professor of inherited metabolic diseases at Amsterdam UMC, The Netherlands
Principal interest(s): 1. pathophysiology, biomarkers, diagnosis, follow-up and treatment of lysosomal storage disorders, in particular the sphingolipidoses and mucopolysaccharidoses
2. keep medicines accessible and affordable for patients.
Area(s) of research: translational studies in lysosomal storage disorders as well as orphan drug regulations and development
Carla Hollak will be giving a talk about “Lysosomal Storage Disorders: The Attenuated Phenotypes”.
Fowzan S Alkuraya Professor
Fowzan S Alkuraya is a professor at King Faisal Specialist Hospital & Research Centre and Alfaisal University, Riyadh, Saudi Arabia
Principal interest(s): Human Genetics
Area(s) of research: Mendelian disorders
Fowzan S Alkuraya will be giving a talk about “Testing the Limits of Mendelian Inheritance Through Autozygosity” on Monday, June 08.
Meet our confirmed conference speakers for this year’s conference and find out more about their background and work.
Nadav Ahituv Professor
Dr. Nadav Ahituv is a Professor in the Department of Bioengineering and Therapeutic Sciences and the Institute for Human Genetics at the University of California, San Francisco, United States
Principal interest(s): His work is focused on identifying gene regulatory elements and linking nucleotide variation within them to various phenotypes including morphological differences between species, drug response and human disease. In addition, his lab is developing massively parallel reporter assays (MPRAs) that allow for high-throughput functional characterization of gene regulatory elements and the use of gene regulatory elements as therapeutic targets.
Area(s) of research: functional genomics, human genetics, development
Nadav Ahituv will be giving a talk about “Functional Characterization and Therapeutic Targeting of Gene Regulatory Elements”.
Alix-Panabieres Catherine Dr, PhD/Director
Alix-Panabieres Catherine is Director of the Laboratory of Rare Human Circulating Cells (LCCRH) at University Medical Center of Montpellier, France
Principal interest(s): Interest in liquid biopsy
Detection and characterization of circulating tumor cells (CTCs) in solid tumors (e.g., breast, prostate, colon cancers).
Area(s) of research: Liquid biopsy: CTCs, ctDNA, exosomes, tumor-educated platelets, miRNA. Epithelial cancers (e.g., breast, ovarian, endometrial, cervix, prostate, colon, rectum, pancreas, head & neck, glioma, non-small cell lung cancers).
Corinne Antignac will be giving a talk about “Circulating Tumor Cells and Minimal Residual Disease, Latest Advances”.
Annely AllikHead of Marketing and Communications
Annely Allik is Head of Marketing and Communications at the Institute of Genomics, University of Tartu, Estonia
Principal interest(s): Sience communication; public engagement
Area(s) of research: Sience communication; Public engagement
Annely Allik will be giving a talk about “Experiences with Return of Results in the Estonian Biobank”.
Jennifer Asimit MRC Career Development Award research fellow/Senior Research Associate
Jennifer Asimit is a MRC Career Development Award research fellow/Senior Research Associate at MRC Biostatistics Unit, University of Cambridge, United Kingdom.
Principal interest(s): Developing statistical methods that improve our genetic understanding of diseases and related traits through multiple outcomes and diverse poplation studies. This involves identifying disease/trait-associated genetic variants, fine-mapping to refine sets of possible causal variants, enrichment tests involving genetic variants and their features, and incorporation of prior biological knowledge/external data.
Jennifer Asimit will be giving a talk about “A Bayesian Framework for Joint Fine-Mapping with Applications to Immune-Mediated Diseases”.
Andrea BallabioDirector, Professor
Andrea Ballabio, is the founder and director of the Telethon Institute of Genetics and Medicine (TIGEM), Professor of Medical Genetics at the University of Naples “Federico II” Italy, Visiting Professor at Baylor College of Medicine in Houston, Texas, and Co-Founder of CASMA Therapeutics, Boston MA, USA.
Principal interest(s): Principal interests: mechanisms underlying genetic diseases, lysosome biology, autophagy, cell signaling.
Andrea Ballabio will be giving a talk about “The Lysosome in the Control of Cell Metabolism ”.
Carrie Blout Director of Research Development
Carrie Blout is a Director of Research Development, Genomes2People/ Senior Genetic Counselor and Project Manager at Brigham and Women’s Hospital, Boston, MA, United States
Principal interest(s): Preventive Genomics, Genetic Counseling
Area(s) of research: Carrie’s research, along with the Genomes2People team, is focused on exploring the medical, behavioral and economic aspects of genomic screening primarily in a healthy and/or unselected populations.
Carrie Blout will be giving a talk about “Empirical Evidence in Preventive Genomics: MedSeq, BabySeq and Beyond”.
Robert BradleyAssociate Member
Robert Bradley is an associate member at Fred Hutchinson Cancer Research Center.
Principal interest(s): RNA mis-splicing in cancer, cancer immune evasion, and isoform-level genetic screens
Area(s) of research:Functional genomics and genetics
Robert Bradley will be giving a talk about “RNA splicing defects in cancer”.
Graham J Burton Professor
Graham J Burton is a Mary Marshall and Arthur Walton Professor of the Physiology of Reproduction at University of Cambridge, United Kingdom.
Principal interest(s): My principal interest is the formation and function of the human placenta, and how deficiencies in maternal-fetal interactions can lead to complications of pregnancy, such as miscarriage, growth restriction and pre-eclampsia.
Area(s) of research: My research is focussed on how a signalling dialogue between the placental trophoblast cells and the maternal endometrial glands stimulates development of the placenta following implantation, and how deficiencies may lead to malperfusion of the placenta, generating oxidative and endoplasmic reticulum stress. I am investigating the dialogue using organoid cultures of the endometrium and trophoblast recently derived in our group.
Graham J Burton will be giving a talk about “Organoids to understand pregnancy disorders”.
Peter Byers Professor
Peter Byers is a Professor at Departments of Pathology and Medicine (Medical Genetics), University of Washington, Seattle, WA, United States
Principal interest(s): Medical Genetics and inherited connective tissue disorders
Area(s) of research: Molecular bases of heritable connective tissue disorders, parental mosaicism and unusual inheritance, splicing and prediction of outcome of splice site mutations
Peter Byers will be giving a talk about “Vascular Presentation of the Ehlers Danlos Syndromes”.
Melina Claussnitzer Professor
Melina Claussnitzer is a Professor at Broad Institute of MIT and Harvard;
BIDMC, Harvard Medical School; University of Hohenheim
Principal interest(s): Variants-to-Function (V2F) Studies; Regulatory Genomics; Metabolic Diseases
Area(s) of research: The Claussnitzer lab focuses on developing strategies to systematically convert genetic variants to target genes, cellular functions and actionable therapeutic and preventive hypotheses in the context of type 2 diabetes and its co-morbidities.
Melina Claussnitzer will be giving a talk about “Large Scale Dissection of the Genetic Architecture of Molecular and Cellular Traits in Adipocytes”.
Mark DePristo is the CEO of BigHat Biosciences, United States.
area(s) of research: BigHat Biosciences is an early-stage Bay Area startup developing an AI-first experimental platform to radically reduce the difficulty of designing antibodies and other therapeutic proteins.
Mark DePristo will be giving a talk about “A Guide to Deep Learning in Healthcare”.
David FitzPatrick Professor
David FitzPatrick is a professor of paediatric genetics at MRC Human Genetics Unit at the University of Edinburgh, United Kingdom
Principal interest(s):The diagnostic use of genomic technologies to understand the cellular basis of severe developmental disorders
Area(s) of research: Eye malformations, genetic disorder of chromatin structure and function
David FitzPatrick will be giving a talk about “Post-Zygotic Mutation as a Cause of Typical Cornelia De Lange Syndrome”.
Doug Fowler Associate Professor
Doug Fowler is an associate professor of Genome Sciences and an Adjunct Associate Professor of Bioengineering at the University of Washington, United States. He is also a CIFAR Azrieli Global Scholar.
Principal interest(s): Dr. Fowler develops and applies high-throughput, sequencing-based assays, and his lab has deep expertise in large-scale experimental approaches and computational analyses. He is now working to understand the effects of the millions of variants found in a typical human genome.
Area(s) of research: Genomics, Technology Development
Doug Fowler will be giving a talk about “Massively Paralleled Variant Interpretation”.
Anna L GloynProfessor,
Anna L Gloyn is a professor of Pediatrics at Stanford University, United States
Principal interest(s): Genetics of Diabetes
Area(s) of research: Anna’s current research projects are focused on the translation of genetic association signals for type 2 diabetes and glycaemic traits into mechanisms for beta-cell dysfunction and diabetes. Her group uses a variety of complementary approaches, including human genetics, genomics, physiology and islet-biology to dissect out the molecular mechanisms driving disease pathogenesis.
Anna is an active member of multiple internal genetic discovery efforts including: NIH/Pharma funded Accelerated Medicines Partnership, DIAGRAM (Diabetes Genetics Replication and Meta-analysis), MAGIC (Meta-analysis of Glucose and Insulin traits Consortium), Type 2 Diabetes Genetic Exploration by Next-generation sequencing in multi-Ethnic Samples (T2D-GENES) and the Genetics of Type 2 Diabetes (GoT2D). She was also involved in the IMI funded STEMBANCC project which delivered human IPS cell derived beta-cell models for disease modelling and drug discovery efforts.
Anna L Gloyn will be giving a talk about “Functional Approaches to Gain Insights Into Type 2 Diabetes Loci”.
Yael Hashiloni-DolevAssociate Professor
Yael Hashiloni-Dolev is an associate professor at Department of Sociology and Anthropology, Ben-Gurion University of the Negev, Be’er-Sheva, Israel. Yael Hashiloni-Dolev is also a member of Israel’s National Bioethics Council and a co-president of The Israeli Society for the History & Philosophy of Science
Principal interest(s): Sociology of Health and Illness, Gender, Bioethics, Science and Technology Studies
Area(s) of research:new reproductive technologies, genetics, contemporary parenthood and posthumous reproduction.
Yael Hashiloni-Dolev is a member of Israel’s National Bioethics Council and a co-presidnt of The Israeli Society for the History & Philosophy of Science
Yael Hashiloni-Dolev will be giving a talk about “Pandora’s Pregnancy – A new Era for Prenatal Genetic Testing”.
Sebastiaan van Heesch Postdoc
Sebastian is a Postdoc in the lab of Norbert Hübner (MDC Berlin, Germany). In July 2020 he will start his own lab at Princess Máxima Center for Pediatric Oncology in Utrecht, The Netherlands
Principal interest(s): I am interested in how RNA translation by ribosomes shapes gene expression regulation in human health and disease, and how this is impacted by genetic variation between individuals. Also, I am passionate about deciphering the possible functional roles of newly discovered (and recently evolved) microproteins produced from presumed noncoding (regions of) genes.
Area(s) of research: Systems biology of complex disease, cardiovascular genetics and genomics, gene expression regulation, noncoding RNAs, mRNA translation.
Sebastiaan van Heesch will be giving a talk about “Identification and Characterization of Novel Microproteins in the Human Heart”.
Harry Heijerman is a professor of Pulmonology at University Medical Center Utrecht, The Netherlands
Principal interest(s): Cystic Fibrosis, Lung Transplantation
Area(s) of research: Cystic Fibrosis
Harry Heijerman will be giving a talk about “Molecular therapy for Cystic Fibrosis”.
Alexander Hoischen Associate Professor
Alexander Hoischen is an associate Professor and research group leader for Genomic Technologies & Immuno-Genomics at department of Human Genetics & department of Internal Medicine, Radboud university medical center, Netherlands.
Principal interest(s): Genomic technologies, immunodeficiencies, rare diseases, immune-mediated diseases, mosaicism, structural variants
Area(s) of research: Genomic technologies to understand human disease.
Our research group focuses on the application of latest genomic technologies to understand human disease. A particular emphasis is put in the understanding of genetic defects that explain immune-related diseases.
Alexander Hoischen will be giving a talk about “Optical mapping for clinical structural variants detection”.
Michael Inouye Associate Professor
Michael Inouye is an associate Professor at University of Cambridge / Baker Heart and Diabetes Institute, United Kingdom
Corinne Antignac will be giving a talk about “Polygenic risk scores in the clinic: Challenges and opportunities”.
Birte KehrJunior Research Group Leader
Birte Kehr is an independent Junior Research Group Leader at Berlin Insitute of Health and Chairté – Universitätsmedizin Berlin, Germany.
Principal interest(s): Developing computational approaches for the analysis of human genome sequence data, in particular to identify and genotype structural variation.
Birte Kehr will be giving a talk about “Improving the Detection and Genotyping of Structural Variation”.
Janet Kelso Bioinformatics Group Leader
Janet Kelso is a Bioinformatics Group Leader at Max Planck Institute for Evoluionary Anthropology, Leipzig, Germany
Principal interest(s): I have a particular interest in the generation and analysis of genome sequences from archaic and early modern humans and in the development of methods for the analysis of ancient genomes. These genomes provide powerful insights into past human movements, interactions between human groups, and the genetic basis of adaptations to new environments.
Janet Kelso will be giving a talk about “Genomes of Archaic Humans and their Contribution to Modern Humans”.
Amit V. Khera Physician Scientist
Amit V. Khera, MD MSc, is a cardiologist at Massachusetts General Hospital (MGH), Associate Director of the Precision Medicine Unit in the MGH Center for Genomic Medicine, and Associate Director of the Cardiovascular Disease Initiative at the Broad Institute of MIT and Harvard. He received his MD with Alpha Omega Alpha distinction from the Perelman School of Medicine at the University of Pennsylvania, and went on to complete clinical training in Internal Medicine and cardiology at Brigham and Women’s Hospital and MGH. He completed a Masters of Science from the Harvard School of Public Health, and a postdoctoral research fellowship with Dr. Sekar Kathiresan in human genetics at the Broad Institute of MIT and Harvard prior to accepting a faculty position.
Principal interest(s): polygenic scores, genomic medicine, cardio metabolic disease
Area(s) of research: He has developed substantial expertise in epidemiology, clinical medicine, and human genetics. Among his scientific contributions, he pioneered a new approach to quantify genetic risk for common diseases, developed biomarkers that provide new biologic insights, and analyzed large-scale gene sequencing data to highlight key pathways driving risk for cardiometabolic disease. His research program uses genetic variation as a tool to uncover new biology and enable enhanced clinical care informed by inherited susceptibility.
In tandem with his research efforts he is co-leading a new Preventive Genomics Clinic at MGH to provide a clinical infrastructure for genome-first medicine
Amit V. Khera will be giving a talk about “Polygenic risk scores and their use in the clinic”.
Mark Kilby Professor
Mark Kilby is a professor in Maternal & Fetal Medicine at University of Birmingham/Birmingham Women’s & Children’s NHS Foundation Trust, United Kingdom
Principal interest(s): Professor Kilby is a senior Consultant and one of six accredited subspecialists providing regional and supra-regional care in Maternal and Fetal Medicine to pregnant women in the West Midlands and regions of the Midlands and North England. Professor Kilby’s clinical expertise relates to prenatal diagnosis, the detection of fetal abnormalities and also fetal therapy; in particular the management of complicated monochorionic twins.
He has published over 390 peer reviewed original articles (h-index of 61; i10 index of 182 and RG score of 59.7). He is an invited Member of the International Fetoscopic Working Group (elected 2005) and an elected Member of the North American Perinatal Research Society (elected 2004).
He chaired the NICE Working Party on Multiple Pregnancy from 2008 to 2011 (and is the senior topic advisor to NICE for the update of the Guideline to be published in 2019) and was also a co-author on the RCOG Green Top Guideline on the Management of Monochorionic Twins (version one 2008 and subsequently the revision published in November 2016).
He was elected as a Fellow of the Royal College of Obstetricians and Gynaecologists in 2007 and served as the elected Fellows Representative until 2017). He has served on the Subspecialty Training Committee at the Royal College of Obstetricians and Gynaecologists between 1997 and 2003 and was appointed as the Chairman of this Committee in 2016. He is presently Chair of the Scientific Advisory Committee at the RCOG and was recently appointed the Fetal Medicine Representative for West Midlands, Oxford and Wessex GEL for Prenatal genomics Medicine.
Professor Kilby is one of three subspecialty practitioners performing fetoscopic laser ablation and other invasive fetal therapeutic treatments for the management of complex monochorionic twins in Birmingham. As already mentioned, he receives referrals from all over the North of England and the Midlands and the Centre performs 50 to 60 fetoscopic laser ablations per annum. He was a PI on the prenatal assessment of genomes and exomes in the United Kingdom.
Mark Kilby will be giving a talk about “Prenatal Exome and Genome Sequencing: The PAGE Study and Future Perspectives”.
Tom Lenaerts Professor
Tom Lenaerts is a Professor at Interuniversity Institute of Bioinformatics in Brussels and the Machine Learning group at the Computer Science Department of the Université Libre de Bruxelles, Belgium.
Principal interest(s): He is currently the director of the Interuniversity Institute of Bioinformatics in Brussels and vice-president of the ULB Computer Science Department. He holds also a partial affiliation as research professor with the Artificial intelligence lab of the Vrije Universiteit Brussel and he is board member of the Benelux Association for Artificial Intelligence (bnvki.org).
Area(s) of research: He has worked in a variety of interdisciplinary domains and has co-authored many internationally published papers in AI, machine learning, optimisation, collective intelligence, computational biology and bioinformatics, aiming to answer theoretical and practical questions within social, biological and medical disciplines.
Tom Lenaerts will be giving a talk about “From digenic predictions to oligogenic networks via a new predictive approach”.
Grazia M.S. Mancini associate Professor
Grazia M.S. Mancini is an associate professor in Clinical Genetics and principal investigator at the ErasmusMC University Medical Center in Rotterdam, The Netherlands.
Principal interest(s): pediatric neurogenetics, dysmorphology and neurodevelopment
Area(s) of research: understanding the cause and mechanism of brain developmental disorders
Grazia M.S. Mancini will be giving a talk about “Microcephaly”.
Hilary Martin Group Leader
Hilary Martin is a group leader at Wellcome Sanger Institute, United Kingdom
Principal interest(s): Wellcome Genome Campus
Area(s) of research: rare disease genetics, consanguinity, population genetics, genetic architecture of rare and common diseases, diverse populations
Hilary Martin will be giving a talk about “Consanguinity and endogamy in health and disease”.
Amade M charek Professor Anthropology of Science
Amade M’charek is Professor Anthropology of Science at the Department of Anthropology, University of Amsterdam. She is the PI of the RaceFaceID research project on forensic identification and the making of face and race, for which she received a five-year ERC Consolidator Grant. In the project she examines the ir/relevance of race; and the ways in which race is done in these practices, and in the relation between the individual and the collective.
Principal interest(s): Genetic diversity, genetic genealogy, population genetics and forensic DNA practices, in addition to biomedical research r.
Area(s) of research: Race, science and technology studies, social studies of genetics, social studies of forensics, physical anthropology, anthropology of science.
Amade M’charek will be giving a talk about “Using Direct to Consumer Test for Forensic Purposes”.
Cristina Mecucci Full Professor
Cristina Mecucci is a full professor of Hematology at University of Perugia, Italy
Principal interest(s): Cancer genetics and cytogenetics, Hematology characterization of new genes and mechanisms underlying leukemia, personalized diagnosis.
Area(s) of research: Cytogenetics, genomics and epigenetics
Cristina Mecucci will be giving a talk about “Somatic versus Germline Alterations in Leukemia”.
Anna Middleton Head of Wellcome Genome Campus Society and Ethics Research
Anna Middleton is a Anna is a senior genetic counsellor and psychologist with expertise in designing innovative surveys and conducting focus groups to explore and understand what people think about the application of genomics. Since 2005 Anna has worked full time as a social scientist academic, having previously worked 10 years in the NHS as a practicing genetic counsellor. In 2016 Anna founded the Society and Ethics Research Group at the Wellcome Genome Campus, which she still heads. She is also Professor/Affiliate Lecturer, Faculty of Education, University of Cambridge.
Principal interest(s): Anna is passionate about delivering research that has real practical value. Areas of interest include understanding attitudes towards genomic data sharing (‘DNA and Big Data’), finding new and creative ways to reach the public with genetics (e.g. via film) and policy for registration of genetic counsellors.
Anna is involved in the genetic counselling profession both in the UK and abroad. She has co-written the core curriculum for STP MSc Genomic as well as Wellcome’s Genomic Practice for Genetic Counsellors course.
Area(s) of research:
*Understanding attitudes towards genomic data sharing, ‘DNA and Big Data’
*How to make genomics resonate for people currently disconnected to the field
*Finding new and creative ways to reach the public with genetics (e.g. via film)
*Attitudes towards the sharing of incidental findings from whole genome studies
*Attitudes towards testing in pregnancy for deafness
*Attitudes towards access of genetic counselling services for D/deaf and hard of hearing people
*Genetic counselling supervision; policy for registration of genetic counsellors
Anna Middleton will be giving a talk about “How is Society Responding to Genomic Technology?”
Ghayda Mirzaa Assistant Professor
Ghayda Mirzaa is an assistant Professor for pediatrics and medical Genetics/Genomics at University of Washington School of Medicine, United States
Principal interest(s): The developmental basis of neurogenetic disorders with a special focus on malformations of cortical development
Area(s) of research: Genomics, stem cells and cerebral organoid models
Ghayda Mirzaa will be giving a talk about “Macrocephaly”.
César Palacios-González Career Development Fellow in Practical Ethics
César Palacios-González is a Career Development Fellow in Practical Ethics at University of Oxford, Oxford Uehiro Centre for Practical Ethics , United Kingdom
Principal interest(s): Bioethics, philosophy of medicine, neuroethics, and applied philosophy
Area(s) of research: The ethics of human/non-human chimera research, the ethics of mitochondrial replacement techniques, and the ethics of in vitro gametogenesis
César Palacios-González will be giving a talk about “Should the UK’s Approach to MRT be Adopted in Other Countries?”.
Aaron Quinlan Professor
Aaron Quinlan is a professor of Human Genetics at University of Utah, United States
Principal interest(s): Mechanisms and consequences of genome mutation
Area(s) of research: Genomics, Computational Biology, Genome Evolution, Rare Human Disease
Aaron Quinlan will be giving a talk about “Annotation and Curation of High-Confidence Structural Variants”.
Towique Raj Associate Professor
Towique Raj is a associate professor at Icahn School of Medicine at Mount Sinai, New York, NY, United States
Principal interest(s): His group is interested in linking genetic risk factors for Alzheimer’s and Parkinson’s disease to changes in innate immune cells that may contribute to disease progression. His group is also applying innovative genomic technologies to characterize how genetic variants affect the transcriptome (mRNA expression and processing), and how these cellular changes contribute to genetic risk for neurodegenerative diseases.
Area(s) of research: Functional genomics, computational biology, neuroscience, and neuroimmunology; and RNA splicing in neurodegeneration;
Corinne Antignac will be giving a talk about “Integrative Transcriptomic Analysis in Neurodegenerative Diseases”.
Michele RamsayProfessor and Director
Michele Ramsay is professor and director of the Sydney Brenner Institute for Molecular Bioscience at University of the Witwatersrand, Johannesburg, South Africa
Principal interest(s): Exploring the role of African population genetic and genomic variation in susceptibility to diseases, in the context of ethnic and environmental diversity. Supporting translational genomics in Africa and considering good practice guidelines for clinical implementation.
Area(s) of research:Genetic basis of rare monogenic eye and skin disorders, African population genetics, genomic architecture of complex diseases and traits, and pharmacogenomics in African populations.
Michele Ramsay will be giving a talk about “The State of the Science of Human Germline Genome Editing and Ethical Concerns”.
Bernhard Renard Professor
Bernhard Renard is a Professor of Data Analytics and Computational Statistics
Principal interest(s): Metagenomics and pathogen discovery, computational and statistical genomics, computational proteomics, explainable AI and variable selection
Area(s) of research:
1) Hasso Plattner Institute, Potsdam/Germany (primary appointment)
2) Digital Engineering Faculty, University of Potsdam, Potsdam, Germany
3) Department of Mathematics and Computer Science, Free University of Berlin, Berlin/Germany
4) Robert Koch Institute, Berlin/Germany
Bernhard Renard will be giving a talk about “Classic misconceptions in high-throughput data analysis and how to learn from them”.
Robert Resta Genetic Counselor
Robert Resta is a Genetic Counselor at Hereditary Cancer Clinic Swedish Medical Center, Seattle, United States
Principal interest(s): Bob has a long standing interest – some might say an obsession – with the psychological, social, historical, and professional aspects of genetic counseling and medical genetics. When all is said and done, though, I am most concerned about the quality of care that genetic counselors provide to patients and how we can help patients and families adapt and thrive in the face of genetic conditions.
Area(s) of research:I am primarily a clinician but when The Fates and patient loads permit it, my research has included the history of genetic counseling and medical genetics, the effects of genetic counseling on cancer risk reducing strategies, the impact of demographic changes on the incidence of Down syndrome, and standardization and the history of pedigree symbols.
Robert Resta will be giving a talk about “What Was, What Is, What If – Trends and Predictions In Assessing Genetic Counseling”.
Patrick Revy Research director, Co-heading
Patrick Revy is Research director at CNRS, Co-heading of the Lab “Genome Dynamics in the Immune System at the Imagine Institute, Paris, France.
Principal interest(s): His scientific interest focuses on genetic diseases characterized by bone marrow failure and developmental anomalies caused by defects in factors involved in DNA repair, telomere protection and ribosome maturation. Identification and characterization of genes responsible for these syndromes.
Area(s) of research: Genetics of Mendelian diseases, Immunology, Haematology, Telomere, DNA repair, Ribosome maturation.
Patrick Revy will be giving a talk about “Somatic Genetic Rescue in Mendelian Haematopoietic Diseases”.
Carlo Rivolta Professor
Carlo Rivolta is a Professor of Ophthalmic Genetics at IOB/Universtiy of Basel, Switzerland
Principal interest(s): Molecular genetics of retinal degenerations
Area(s) of research: Medical genetics, computational biology
Carlo Rivolta will be giving a talk about “Common Variants Determine Quasi-Mendelian Inheritance of Rare Diseases”.
Christian SchaafMedical Director and Department Chair
Christian Schaaf is the Department Chair of the Institute and the Mediacal Director of the Department of Human Genetics at Universitätsklinikum Heidelberg, Germany.
Principal interest(s): Christian is a physician scientist who wants to understand how genes influence human cognition and behavior. His laboratory at the University of Heidelberg is dedicated to investigating the genetic basis of neurodevelopmental and neuropsychiatric disorders. Christian’s focus is on translational research. All of his research projects relate to patients he has encountered in clinic. Christian is a solver of medical mysteries. By treating each patient with respect and curiosity, he has not only made a real difference in the affected individuals’ lives, but also made seminal discoveries in the field of neuropsychiatric disease research.
Area(s) of research: Christian and his team take a multi-facetted approach, including basic biochemical and cell biological studies, animal models, and clinical trials in human patients. Their current research focuses on three genes and their associated phenotypes in the context of neuropsychiatric disease: CHRNA7, the gene encoding the alpha7 nicotinic receptor; MAGEL2, an imprinted gene in the Prader-Willi syndrome locus, truncating mutations of which are the cause of Schaaf-Yang syndrome (OMIM #615547); and NR2F1, the gene for Bosch-Boonstra-Schaaf Optic Atrophy syndrome (OMIM #615722), a neurodevelopmental disorder characterized by vision impairment and intellectual disability.
Christian Schaaf will be giving a talk about “The Patient’s Role in New Disease Gene Discovery”.
Raphael Schiffmann Investigator and Neurologist
Raphael Schiffmann is an Investigator and Neurologist at Baylor Scott & White Health Research Institute, United States
Principal interest(s): Neurometabolic disorders and in particular lysosomal diseases and leukodystrophies.
Area(s) of research: The pathogenesis and treatment of Fabry disease and neuronopathic Gaucher disease.
Raphael Schiffmann will be giving a talk about “Therapy of Lysosomal Storage Disorders – Lessons from Fabry Disease”.
Marcel SchulzAssistant Professor
Marcel Schulz is an Assistant Professor for Computational Biology at Goethe University Frankfurt and the University Clinic Frankfurt am Main, Germany.
Principal interest(s): Using computational methods for the integration of several data types (mostly epigenomics, expression and genetic data) to decipher gene regulation. A current focus of the lab is the analysis of regenerative processes in the heart and gene regulation in different cardiovascular diseases.
Area(s) of research: Gene Regulation, Computational Epigenomics, Machine Learning
Marcel Schulz will be giving a talk about “A Guide to Deep Learning in Healthcare”.
Heather Skirton Professor
Heather Skirton joined the Education Committee of the ESHG in 2004 and led the work to establish standards of education and practice for genetic nurses and genetic counsellors in Europe. She was the inaugural chair of the European Board of Medical Genetics. She has now retired as Professor of Applied Health Genetics at Plymouth University, United Kingdom.
Principal interest(s):Heather has a background in clinical work as a nurse, midwife, registered genetic counsellor and qualified psychological counsellor. In 2000, after completing her PhD on the value of genetic counselling for families, she moved to an academic role, as co-director of the MSc in genetic counselling at Cardiff. She has a long history of providing education to improve the competence in genetic healthcare in a wide range of health professionals within and beyond Europe. Her special educational interest has been to foster development of counselling skills for health professionals working in a genetics context.
Area(s) of research: Heather’s research, resulting in over 170 peer-reviewed papers, focused on improvement of health services for families with genetic conditions, particularly in the field of prenatal genetic testing and screening, and development of professional competence in genetics. She was a partner in the EuroGentest project and project leader for the EU-funded Gen-Equip project (2014-2017) to provide genetics education for primary care professionals.
Heather Skirton will be giving a talk about “ELPAG Award Lecture”.
Rima Slim Associate Professor
Rima Slim is an associate professor of Department of Human Genetics and Obstetrics Gynecology at McGill University, Montreal, Canada
Principal interest(s): The genetics of molar pregnancies and reproductive loss
Area(s) of research: The research work of my group focuses on the identification of novel genes responsible for recurrent molar pregnancies and other forms of reproductive loss and on the elucidation of the functions of these genes and the mechanisms by which they lead to these conditions.
Rima Slim will be giving a talk about “Genetics of Recurrent Hydatidiform Moles: Novel Findings and Patient Counselling”.
Doug Speed Researcher
Doug Speed is a resarcher at Aarhus University, Denmark
Principal interest(s): Statistical Genetics; Methods for analyzing GWAS data; SNP-Based Heritability Analysis
Area(s) of research: Doug is a statistical geneticist, who primarily develops methods for more efficiently analyzing data from genome-wide association studies (GWAS). He is particularly interested in mixed models and SNP-based heritability estimation. He created the software package LDAK, that provides world-leading tools for performing heritability analysis (e.g., estimating SNP heritability, functional enrichments, the impact of selection), both using individual-level data and summary statistics.
Doug Speed will be giving a talk about “Flexible Heritability Estimation from Summary Statistics”.
Didier Stainier PhD, Director
Didier Stainier is the Director of the Department of Developmental Genetics at the Max Planck Institute for Heart and Lung Research, Germany
Area(s) of research: Didier’s work is widely credited for pioneering the use of the zebrafish system to study the development and function of multiple organ systems including the heart, pancreas and liver. His lab investigates questions in cell differentiation, tissue morphogenesis, organ homeostasis and function, as well as organ regeneration. It studies these questions in zebrafish as well as in mouse and is currently looking at several mesodermal (heart, vasculature) and endodermal (pancreas, lung) organs. The lab utilizes both forward and reverse genetic approaches, and aims to dissect cellular processes using high-resolution live imaging. One of the goals is to gain understanding of vertebrate organ development at the single-cell level. In the past several years, Didier’s lab has also become interested in issues pertaining to genetic compensation and transcriptional adaptation.
Didier Stainier will be giving a talk about “Genetic Compensation”.
Alexander StarkGroup leader and Senior scientist, Adjunct Professor
Alexander Stark is a Group leader and Senior scientist at the Research Institute of Molecular Pathology (IMP) in Vienna and an Adjunct Professor at the Medical University of Vienna, Austria.
Principal interest(s): The identification and functional characterization of gene-regulatory genomic elements and the mechanistic understanding of how the cellular machinery mediates transcription activation and repression.
Area(s) of research: Gene regulation, functional genomics, computational biology
Alexander Stark will be giving a talk about “Dissecting and Understanding Non-Coding Sequences”.
Julia StinglUniv. Professor
Julia Stingl is a professor of Clinical Pharmacology at University Hospital of RWTH Aachen, Germany.
Principal interest(s): Understanding the genetic background of variability in drug effects, pharmacogenetics of drug metabolism, Cytochrome P450 enzymes, pharmacogenetics adjusted dosing
Area(s) of research: Clinical Pharmacology, Pharmacogenetics and genomics, Drug Metabolism, Psychopharmacology
Julia Stingl will be giving a talk about “Pharmacogenetics – From Bench to Drug Label”.
Volker StraubHarold Macmillan Professor of Medicine
Volker Straub is a Harold Macmillan Professor of Medicine at Institute of Translational and Clinical Research, Newcastle University.
Principal interest(s): Volker was trained as a pediatric neurologist at the University of Düsseldorf and the University of Essen in Germany. He wrote his PhD thesis on Duchenne muscular dystrophy (DMD) and worked as a postdoctoral research fellow in Dr Kevin Campbell’s laboratory at the Howard Hughes Medical Institute at the University of Iowa in Iowa City, USA.
Volker has a long-standing interest in the pathogenesis of genetic muscle diseases, with research using zebrafish and mouse models. His current research also involves the application of magnetic resonance imaging, next generation sequencing and other –omics technologies for the characterization of primary neuromuscular disorders.
One of Volker’s main interests in muscle diseases is around translational research. He was the co-founder of the EU FP6 funded network of excellence for genetic neuromuscular diseases, TREAT-NMD (www.treat-nmd.eu). He is the CI/ PI for a number of natural history and interventional trials in DMD, LGMD, Pompe disease, spinal muscular atrophy and other NMDs. He is an executive board member of the World Muscle Society and an author on >300 peer-reviewed publications.
Volker Straub will be giving a talk about “Trial readiness, trial endpoints and stakeholder collaboration”.
Bernard Thienpont Assistant professor
Bernard Thienpont is an assistant professor (research professor) at the Department of Human Genetics and Head of the Laboratory for Functional Epigenetics, Faculty of Medicine, KU Leuven, Belgium
Principal interest(s): The development and deployment of epigenetic and single cell technologies to understand human diseases
Area(s) of research: Epigenetics, Single-cell, Cancer and cardiovascular diseases
Bernard Thienpont will be giving a talk about “Single-Cell RNA-Seq on Tumor Microenvironment in Lung Cancer”.
Pavel TolarGroup Leader
Pavel Tolar is a group leader/ Immune Receptor Activation Laboratory at Francis Crick Institute, London, United Kingdom
Principal interest(s): Regulation of B lymphocyte responses in immunity and immune pathology, dynamic cell imaging, CRISPR genetics
Area(s) of research: I am are interested in signalling and endocytic pathways in B lymphocytes that regulate responses to antigenic challenge and that sometimes give rise to immune pathology and blood cancers. We are focusing on the role of cellular mechanics in antigen recognition and uptake by the B cell antigen receptor during antibody responses. More recently, we began using whole-genome CRISPR approaches to map cellular pathways involved in various steps of B lymphocyte activation and in malignant growth.
Pavel Tolar will be giving a talk about “Genome-Wide CRISPR-Cas9 Screening in Immune Cells”.
Richard Turner Dr.
Dr Richard Turner is an Academic Clinical Lecturer in Clinical Pharmacology and Therapeutics with General Internal Medicine and a study physician on an MHRA Phase 1-accredited clinical research unit. He also currently holds a Health Education England (HEE) Genomics Research and Innovation Fellowship. He is based at the Wolfson Centre for Personalised Medicine in the University of Liverpool and at the Royal Liverpool Hospital, UK.
Area(s) of research: His primary research interests are pharmacogenomics, dose-exposure relationships, and their contribution to interindividual variability in drug response.
Richard Turner will be giving a talk about “Pharmacogenomic testing in clinical practice”.
Roddy Walsh Scientist
Roddy Walsh is a scientist at Amsterdam UMC, the Netherlands.
Principal interest(s): Exploring the genetic basis of inherited cardiac diseases – identifying and validating genes associated with inherited cardiomyopathies and arrhythmias, developing methods for rare variant interpretation in clinical genetic testing, exploring genetics of rare diseases in understudied populations.
Area(s) of research: Mendelian and non-Mendelian genetics of inherited cardiac diseases, rare variant interpretation
Roddy Walsh will be giving a talk about “Challenges in Diagnostic Sequencing for Inherited Cardiac Conditions”.
Wannes Van HoofPhD
Wannes Van Hoof is a scientist at Sciensano, Brussels, Belgium.
Principal interest(s): Bioethics and public engagement in genomics
Area(s) of research: We organised a citizen forum in Belgium where we asked citizens to give their opinion on the use of genomic information in society and presented their policy outputs to stakeholders and policy makers. Recently, we organised a broad societal ‘DNA debate’ online.
Wannes Van Hoof will be giving a talk about “My DNA, whose business is it anyway? A Citizen Forum on the Societal Impact of Genomics”.
Miles F. WilkinsonDistinguished Professor
Miles F. Wilkinson is a professor at Department of Obstetrics, Gynecology, and Reproductive Science at University of California, San Diego.
Principal interest(s):(i) the role of the highly conserved and selective RNA decay mechanism—nonsense-mediated RNA decay (NMD)—in normal development and disease; (ii) the role of NMD in primate evolution; (iii) the role of the RHOX homeobox transcription factors in reproduction; (iv) the initial establishment and heterogeneity of spermatogonial stem cells.
Miles F.Wilkinson will be giving a talk about “Nonsense Mediated Decay in Neuronal Development and Disease”.
Ambroise Wonkam Professor, Deputy dean Research
Ambroise Wonkam is a professor of medical genetics and the deputy dean research at Faculty of Health Sciences, University of Cape Town, South Africa
Principal interest(s): His research interests are reflected in more than 140 peer-reviewed publications, which are in molecular, clinical, educational and ethical aspects of medical and human genetics. His research focuses on 1) Psychosocial Burden and Genomics modifiers of Sickle Cell Disease (SCD); 2) Genetics of hearing loss, and 3) Ethical and educational Issues in human genetics in Africa.
Area(s) of research: Prof Wonkam has let successfully over the past 5 years an NIH/NHGRI funded SCD project, and as Co-applicant, a Wellcome Trust – DELTAS grant to develop capacity in human Genetic on the African continent. He has recently been granted from NIH/NHLBI 3.7m USD, to establish a Sickle Africa Data Coordinating Centre (SADaCC), to develop various studies in Tanzania, Nigeria and Ghana. In addition under the new round of the H3Africa Consortium, he was Awarded 3 grants to support the Hearing impairment Genetic Studies in Africa (HI Genes Africa) from the NIH/NHGRI (1.25mUSD) and the AESA/Wellcome Trust (2.07mUSD); and another collaborative center grant from the NIH/NHGRI (2.5mUSD) to support the study of Incidental Findings in Genetic Research in Africa (IFGENERA).
Prof Wonkam is associate Editor of the American Journal of Human Genetics, the American Journal of Medical Genetics, the Journal of Community Genetics, and Academic Editor of Plos One.
Prof Wonkam is president of the African Society of Human Genetics, member of the steering committee of H3Africa consortium, Board member of the International Federation of Human Genetics Societies, council member of Human Genome Organization, steering committee’s member of the Global Genetic Medicine Collaborative (G2MC).
Ambroise Wonkam will be giving a talk about “Why We Should Study African Genomic Variation”.
Alexander Young Research Scientist
Alexander Young is a research scientist at University of Southern California, Los Angeles, United States.
Principal interest(s): statistical genetics, social science
Area(s) of research: heritability, gene-environment correlation, family based methods, gene-environment interactions.
Alexander Young will be giving a talk about “Heritability Estimation and Gene-Environment Interactions”.