Meet our confirmed conference speakers for this year’s conference and find out more about their background and work.
Stylianos Antonarakis is professor and chairman at the University of Geneva Medical School in Geneva, Switzerland.
Principal interest(s): Genetics
He will be giving a talk on Sunday, May 28 about “The molecular pathogenesis of trisomy 21”.
Principal interest(s): Genetics
He will be giving a talk on Sunday, May 28 about “The molecular pathogenesis of trisomy 21”.
Antonis Antoniou is reader in Cancer Risk Prediction at the Department of Public Health and Primary Care, University of Cambridge in Cambridge, United Kingdom. Principal interest(s): The development and application of statistical modelling techniques to the inherited susceptibility of disease and common cancers
Area(s) of research: Development of risk prediction models for familial breast, ovarian and prostate cancer (inc Boadicea model); identification and characterization of modifiers of cancer risk for BRCA1 and BRCA2 mutation carriers.
He will be giving a talk about “What have we learned about health and disease in Big Cancer Genetic Consortia” on Saturday, May 27.
Area(s) of research: Development of risk prediction models for familial breast, ovarian and prostate cancer (inc Boadicea model); identification and characterization of modifiers of cancer risk for BRCA1 and BRCA2 mutation carriers.
He will be giving a talk about “What have we learned about health and disease in Big Cancer Genetic Consortia” on Saturday, May 27.
Barbara Biesecker is an associate investigator and training program director at the National Human Genome Research Institute in Bethesda, MD, United States of America.
Principal interest(s): Genetic Counseling: Practice, Training and Research
Area(s) of research: Clinical translation of sequencing: consent, decision-making, and response to results
She will give a talk about “The Evolution of Genetic Counseling: Effectively Meeting Our Clients’ Needs” in the ESHG-ASHG Building Bridges Debate on Tuesday, May 30.
Principal interest(s): Genetic Counseling: Practice, Training and Research
Area(s) of research: Clinical translation of sequencing: consent, decision-making, and response to results
She will give a talk about “The Evolution of Genetic Counseling: Effectively Meeting Our Clients’ Needs” in the ESHG-ASHG Building Bridges Debate on Tuesday, May 30.
Bernd Bodenmiller is an assistant professor at the Institute of Molecular Life Sciences in Zurich, Switzerland.
He will give a talk about “Towards single-cell proteomics: Unraveling cell populations in health and disease by single-cell mass cytometry” on Sunday, May 28.
He will give a talk about “Towards single-cell proteomics: Unraveling cell populations in health and disease by single-cell mass cytometry” on Sunday, May 28.
Yvonne Bombard is an assistant professor and a scientist at the Li Ka Shing Knowledge Institute, St. Michael’s Hospital and at the Institute of Health Policy, Management and Evaluation, University of Toronto in Toronto, Canada
Principal interest(s): Genomics health services and policy research, health outcomes and impact of new genetic tests, patient & public engagement, health technology assessment, mixed methods, personalized medicine.
Area(s) of research: Genomics health services and policy research, health outcomes and impact of new genetic tests, patient & public engagement, health technology assessment, mixed methods, personalized medicine.
She will be giving a talk about “Data sharing, testing in minors” on Sunday, May 28.
Principal interest(s): Genomics health services and policy research, health outcomes and impact of new genetic tests, patient & public engagement, health technology assessment, mixed methods, personalized medicine.
Area(s) of research: Genomics health services and policy research, health outcomes and impact of new genetic tests, patient & public engagement, health technology assessment, mixed methods, personalized medicine.
She will be giving a talk about “Data sharing, testing in minors” on Sunday, May 28.
Kym Boycott is professor of Pediatrics at the University of Ottawa in Ottawa, Canada.
Principal interest(s): rare diseases, neurogenetics
Area(s) of research: molecular genetics, genomic sequencing, gene identification
She will be giving a talk about “Genome-based rare disease diagnostics” on Saturday, May 27.
Principal interest(s): rare diseases, neurogenetics
Area(s) of research: molecular genetics, genomic sequencing, gene identification
She will be giving a talk about “Genome-based rare disease diagnostics” on Saturday, May 27.
Frédéric Brioude is assistant professor at the Trousseau Children Hospital, Assistance Publique – Hopitaux de Paris, Université Pierre et Marie Curie in Paris, France.
Principal interest(s): Pediatric endocrinology, imprinting disorders
Area(s) of research: Imprinting disorders: Beckwith Wiedemann and Silver Russell syndromes – molecular mechanisms and pathophysiology
He will be giving a talk about “Clinical and molecular overview of Beckwith-Wiedemann and Silver-Russel syndromes” on Saturday, May 27.
Principal interest(s): Pediatric endocrinology, imprinting disorders
Area(s) of research: Imprinting disorders: Beckwith Wiedemann and Silver Russell syndromes – molecular mechanisms and pathophysiology
He will be giving a talk about “Clinical and molecular overview of Beckwith-Wiedemann and Silver-Russel syndromes” on Saturday, May 27.
Han Brunner is professor at the Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour in Nijmegen and at the Department of Clinical Genetics, Maastricht University Medical Center, GROW School for Oncology and Developmental Biology in Maastricht, Netherlands.
He will be giving a talk about “Human genetics: The present (clinical genomics)” on Saturday, May 27.
He will be giving a talk about “Human genetics: The present (clinical genomics)” on Saturday, May 27.
Ana Buj-Bello is group leader at the French National Institute of Health and Medical Research – Genethon/INSERM UMR S951 – and heads a research team at Genethon in Evry, France.
Principal interest(s): Medical research
Area(s) of research: Neuromuscular diseases, Gene therapy
She will be giving a talk about “Gene therapy in myotubular myopathy” on Sunday, May 28.
Principal interest(s): Medical research
Area(s) of research: Neuromuscular diseases, Gene therapy
She will be giving a talk about “Gene therapy in myotubular myopathy” on Sunday, May 28.
Gabriel Capella is director of the Hereditary Cancer Program at the Catalan Institute of Oncology-IDIBELL in Barcelona, Spain.
Principal interest(s): Hereditary Colorectal Cancer
Area(s) of research: Clinical genetics, molecular diagnosis, Biomarkers, Animal models
He will be giving a talk about “Precision cancer medicine: translating laboratory studies into improvements in patient care” on Sunday, May 28.
Principal interest(s): Hereditary Colorectal Cancer
Area(s) of research: Clinical genetics, molecular diagnosis, Biomarkers, Animal models
He will be giving a talk about “Precision cancer medicine: translating laboratory studies into improvements in patient care” on Sunday, May 28.
Ruth Chadwick is professor of Bioethics at the University of Manchester, Centre for Social Ethics and Policy in Manchester, Great Britain.
Principal interest(s): gene – ethics
Area(s) of research: personalised medicine; data sharing
She will be giving a talk on “Reflecting on ethics in genetics: The past, present and future” in the ESHG-ASHG Building Bridges Debate on Tuesday, May 30.
Principal interest(s): gene – ethics
Area(s) of research: personalised medicine; data sharing
She will be giving a talk on “Reflecting on ethics in genetics: The past, present and future” in the ESHG-ASHG Building Bridges Debate on Tuesday, May 30.
Alain Chédotal works as PhD and DR1 at the INSERM – French National Institute of Health and Medical Research and at the Institut de la Vision in Paris, France.
Principal interest(s): Developmental Neurobiology, embryology
Area(s) of research: axon guidance, neuronal migration, regeneration
He will be giving a talk about “Development Function and Evolution of brain commissures” on Sunday, May 28.
Principal interest(s): Developmental Neurobiology, embryology
Area(s) of research: axon guidance, neuronal migration, regeneration
He will be giving a talk about “Development Function and Evolution of brain commissures” on Sunday, May 28.
George Church is professor at the Department of Genetics, Harvard Medical School in Boston, MA, United States of America.
Principal interest(s): Development of methods used for the first genome sequence (1994) & genome recoding & million-fold cost. He co-initiated the BRAIN Initiative (2011) & Genome Projects (1984, 2005) to provide & interpret the world’s only open-access personal precision medicine.
He will be giving the Mendel Lecture with the topic “Reading and Writing Genomes” on Tuesday, May 30 at 14:15 hrs.
Principal interest(s): Development of methods used for the first genome sequence (1994) & genome recoding & million-fold cost. He co-initiated the BRAIN Initiative (2011) & Genome Projects (1984, 2005) to provide & interpret the world’s only open-access personal precision medicine.
He will be giving the Mendel Lecture with the topic “Reading and Writing Genomes” on Tuesday, May 30 at 14:15 hrs.
Martina Cornel is professor of Community Genetics & Public Health Genomics at the VU University Medical Center in Amsterdam, The Netherlands.
Principal interest(s): Population and screening
Area(s) of research: Policy development
She will be giving a lecture about “Gene editing, NIPT” on Sunday, May 28.
Principal interest(s): Population and screening
Area(s) of research: Policy development
She will be giving a lecture about “Gene editing, NIPT” on Sunday, May 28.
Noel de Miranda is principal investigator at the Leiden University Medical Center in Leiden, The Netherlands.
Principal interest(s): Cancer, Genetics, Immunology
He will be giving a talk about Mutational landscape of cancer immunotherapy on Monday, May 29.
Principal interest(s): Cancer, Genetics, Immunology
He will be giving a talk about Mutational landscape of cancer immunotherapy on Monday, May 29.
Bart Deplancke is an associate professor at the Swiss Federal Institute of Technology Lausanne (EPFL) in Lausanne, Switzerland.
Principal interest(s): Single cell, regulatory genomics, systems genetics, stem cell, metabolism / aging
He will be giving a talk about “Stem cell identification and characterisation in adipose tissue using single-cell RNA-seq based approaches” on Sunday, May 28.
Principal interest(s): Single cell, regulatory genomics, systems genetics, stem cell, metabolism / aging
He will be giving a talk about “Stem cell identification and characterisation in adipose tissue using single-cell RNA-seq based approaches” on Sunday, May 28.
Denis Duboule is professor and chair at the University of Geneva in Geneva, Switzerland.
Principal interest(s): Mammalian experimental genetics
Area(s) of research: Mouse development, gene regulation
He will be giving a talk about “Hox gene regulation” on Sunday, May 28.
Principal interest(s): Mammalian experimental genetics
Area(s) of research: Mouse development, gene regulation
He will be giving a talk about “Hox gene regulation” on Sunday, May 28.
D. Gareth R Evans is professor of Medical Genetics and Cancer Epidemiology at the University of Manchester in Manchester, Great Britain.
Principal interest(s): Neurofibromatosis, familial breast and ovarian cancer
Area(s) of research: Cancer Genetics, Genetic Epidemiology
He will be giving a talk about “Neurofibromatosis Update ” on Sunday, May 28.
Principal interest(s): Neurofibromatosis, familial breast and ovarian cancer
Area(s) of research: Cancer Genetics, Genetic Epidemiology
He will be giving a talk about “Neurofibromatosis Update ” on Sunday, May 28.
Greg Findlay is MD/PhD graduate student at the Department of Genome Sciences, University of Washington, in Seattle, WA, United States of America.
Principal interest(s): Genome editing, functional genomics, lineage tracing
Area(s) of research: Human genetics and organismal development
He will be giving a talk about “Engineering genetic diversity with CRISPR-Cas9: Applications from phenotyping thousands of variants to tracing cellular lineages” on Saturday, May 27.
Principal interest(s): Genome editing, functional genomics, lineage tracing
Area(s) of research: Human genetics and organismal development
He will be giving a talk about “Engineering genetic diversity with CRISPR-Cas9: Applications from phenotyping thousands of variants to tracing cellular lineages” on Saturday, May 27.
David R FitzPatrick is professor at the MRC Human Genetics Unit, IGMM, University of Edinburgh in Edinburgh, Great Britain.
Principal interest(s): Molecular and developmental basis of paediatric genetic disease
Area(s) of research:Intellectual disability, eye malformations, sudden infant death
He will be giving a talk about “Integrating the Phenomic and Genomic Architectures of Developmental Disorders” on Monday, May 29.
Principal interest(s): Molecular and developmental basis of paediatric genetic disease
Area(s) of research:Intellectual disability, eye malformations, sudden infant death
He will be giving a talk about “Integrating the Phenomic and Genomic Architectures of Developmental Disorders” on Monday, May 29.
Lars A. Forsberg is associate professor at the Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Beijer Laboratory of Genome Research, Uppsala University, Uppsala, Sweden.
Principal interest(s): Somatic mosaicism in health and disease.
Area(s) of research: Mosaic loss of chromosome Y (LOY) in blood and its impact on human disease such different forms of cancer, Alzheimer’s disease as well as other conditions in aging men. We study associations, functional consequences and detection methods.
He will be giving a talk about “Mosaic loss of chromosome Y – not that normal benign phenomenon after all” on Sunday, May 28.
Principal interest(s): Somatic mosaicism in health and disease.
Area(s) of research: Mosaic loss of chromosome Y (LOY) in blood and its impact on human disease such different forms of cancer, Alzheimer’s disease as well as other conditions in aging men. We study associations, functional consequences and detection methods.
He will be giving a talk about “Mosaic loss of chromosome Y – not that normal benign phenomenon after all” on Sunday, May 28.
Barbara Franke is professor of Molecular Psychiatry at the Departments of Human Genetics and Psychiatry, Radboud University Medcal Center and Donders Institute for Brain, Cognition and Behaviour in Nijmegen, The Netherlands.
Principal interest(s): Understanding the genetic architecture of psychiatric neurodevelopmental disorders, mapping biological pathways from gene to disease
Area(s) of research: Psychiatric neurodevelopmental disorders, mainly ADHD, autism
She will be giving a talk about “Brain imaging genetics in neurodevelopmental disorders” on Sunday, May 28.
Principal interest(s): Understanding the genetic architecture of psychiatric neurodevelopmental disorders, mapping biological pathways from gene to disease
Area(s) of research: Psychiatric neurodevelopmental disorders, mainly ADHD, autism
She will be giving a talk about “Brain imaging genetics in neurodevelopmental disorders” on Sunday, May 28.
David González de Castro is professor of Genomic Medicine at the Centre for Cancer Research and Cell Biology, Queen’s University Belfast in Belfast, United Kingdom.
Principal interest(s): Cancer genomics, precision medicine, molecular pathology and diagnostics, circulating tumour DNA
Area(s) of research: Lung cancer, GI cancers, lymphomas and leukaemias, soft-tissue sarcomas, molecular biomarkers, disease monitoring, immunogenomics.
He will be giving a talk about “Next-generation sequencing: a change of paradigm in molecular diagnostics of cancer” on Sunday, May 28.
Principal interest(s): Cancer genomics, precision medicine, molecular pathology and diagnostics, circulating tumour DNA
Area(s) of research: Lung cancer, GI cancers, lymphomas and leukaemias, soft-tissue sarcomas, molecular biomarkers, disease monitoring, immunogenomics.
He will be giving a talk about “Next-generation sequencing: a change of paradigm in molecular diagnostics of cancer” on Sunday, May 28.
Jay Gopalakrishnan is group leader at the University of Cologne in Cologne, Germany.
Principal interest(s): Centrosomes, cilia, microcephaly, neurodegeneration, cancer
Area(s) of research: Neural stem cell homeostasis
He will be giving a talk about “Common mechanisms between Zika virus-induced and inherited microcephaly in human brain organoids” on Monday, May 30.
Principal interest(s): Centrosomes, cilia, microcephaly, neurodegeneration, cancer
Area(s) of research: Neural stem cell homeostasis
He will be giving a talk about “Common mechanisms between Zika virus-induced and inherited microcephaly in human brain organoids” on Monday, May 30.
Renzo Guerrini is professor and head of the Department of Neuroscience, University of Florence and Meyer Children’s Hospital in Florecne, Italy.
Area(s) of research: Pediatric Epilepsy, Brain developmental disorders
He will be giving a talk about “Brain channelopathies” on Saturday, May 27.
Area(s) of research: Pediatric Epilepsy, Brain developmental disorders
He will be giving a talk about “Brain channelopathies” on Saturday, May 27.
Mats Hansson is Professor at the Centre for Research Ethics & Bioethics at Uppsala University in Uppsala, Sweden.
Area(s) of research: Bioethics & research ethics
He will be giving a talk about “ELSI issues and the implementation of genetics in clinical practice” in the ESHG-ASHG Building Bridges Debate on Tuesday, May 30.
Area(s) of research: Bioethics & research ethics
He will be giving a talk about “ELSI issues and the implementation of genetics in clinical practice” in the ESHG-ASHG Building Bridges Debate on Tuesday, May 30.
Edith Heard is head of Genetics and Developmental Biology Unit, Institut Curie and professor at the Collège de France in Paris, France.
Area(s) of research: Epigenetics, X inactivation, Chromosome organisation and development
She will be giving the ESHG Award Lecture on the topic “X-chromosome structure and epigenetic dynamics during X inactivation” on Tuesday, May 30 at 14:15 hrs.
Area(s) of research: Epigenetics, X inactivation, Chromosome organisation and development
She will be giving the ESHG Award Lecture on the topic “X-chromosome structure and epigenetic dynamics during X inactivation” on Tuesday, May 30 at 14:15 hrs.
Ellen Heitzer is assiociate professor at the Institute of Human Genetics, Medical University Graz in Graz, Austria.
Principal interest(s): Analysis of circulating tumor NDA
Area(s) of research: Liquid biopsies, hereditary cancer syndromes
She will be giving a talk about “Circulating tumor DNA in cancer monitoring” on Sunday, May 28.
Principal interest(s): Analysis of circulating tumor NDA
Area(s) of research: Liquid biopsies, hereditary cancer syndromes
She will be giving a talk about “Circulating tumor DNA in cancer monitoring” on Sunday, May 28.
Doug Higgs is professor at the Medical Research Council in Oxford, Great Britain.
Principal interest(s): Gene Regulation in haematopoiesis
He will be giving a talk about “Long Range regulation of mammalian gene expression” Sunday, May 28.
Principal interest(s): Gene Regulation in haematopoiesis
He will be giving a talk about “Long Range regulation of mammalian gene expression” Sunday, May 28.
Henry Houlden is professor of Neurogenetics at the University College London in London, Great Britain.
Principal interest(s): Genetics of movement disorders and neuromuscular conditions
Area(s) of research: Human genetics; gene discovery and function
He will be giving a talk about “Muscle channelopathies” on Saturday, May 27.
Principal interest(s): Genetics of movement disorders and neuromuscular conditions
Area(s) of research: Human genetics; gene discovery and function
He will be giving a talk about “Muscle channelopathies” on Saturday, May 27.
Meritxell Huch is group leader at the Wellcome Trust/Cancer Research UK Gurdon Institute, University of Cambridge in Cambridge, Great Britain.
Area(s) of research: Stem cells and tissue regeneration in liver and pancreas
She will be giving a talk about “Liver organoids for the study of liver biology and disease” on Monday, May 29.
Area(s) of research: Stem cells and tissue regeneration in liver and pancreas
She will be giving a talk about “Liver organoids for the study of liver biology and disease” on Monday, May 29.
Sergiusz Jóźwiak is a professor and the head of the Department of Pediatric Neurology at the Warsaw Medical University. He received his Medical Degree from the Medical University Warsaw in 1983 and doctoral degree from the Children’s Memorial Health Institute in 1990. Prof. Jóźwiak completed his habilitation at the same institute in 1995 and was appointed Head of the Paediatric Neurology and Epileptology Department in 1997 in the same institution. He hold this position until May 2015, when he moved to Warsaw Medical University. In years 2009-2014 he served as a National Consultant in Paediatric Neurology. Prof. Jóźwiak’s research focuses mainly on neurocutaneous disorders and epilepsy, especially infantile spasms. For over 20 years, he has led a special programme for tuberous sclerosis patients and worked out practical guidelines for TSC management. In 2009 Prof. Jóźwiak received the prestigious Manuel Gomez Award established by Tuberous Sclerosis Alliance for “creative or pioneering efforts that have appreciably improved either the understanding of the disease or the clinical care available for individuals with tuberous sclerosis”. Currently, he is a coordinator of the large-scale European Commission Project EPISTOP evaluating clinical and molecular biomarkers of epileptogenesis in a genetic model of epilepsy –tuberous sclerosis complex (www.EPISTOP.eu). Prof. Jóźwiak is an active member of numerous international organisations, and has published more than 300 papers in national and international peer reviewed journals. Prof. Jóźwiak is on the editorial boards of several professional journals as Pediatric Neurology (USA), European J.Paediatric Neurology (Amsterdam), Journal of Child Neurology (USA).
He will be giving a talk about “Tuberous Sclerosis Update” on Sunday, May 28.
He will be giving a talk about “Tuberous Sclerosis Update” on Sunday, May 28.
Eric Juengst is director of the UNC Center for Bioethics at the School of Medicine, University of North Carolina in Chapel Hill, NC, United States of America.
Principal interest(s): Philosophy of medicine, bioethics, ELSI of genomics
Area(s) of research: ELSI of genomic and precision medicine
He will be giving a talk about “Personalized and preventative genomic medicine: From dream to reality?” in the ESHG-ASHG Building Bridges Debate on Tuesday, May 30.
Principal interest(s): Philosophy of medicine, bioethics, ELSI of genomics
Area(s) of research: ELSI of genomic and precision medicine
He will be giving a talk about “Personalized and preventative genomic medicine: From dream to reality?” in the ESHG-ASHG Building Bridges Debate on Tuesday, May 30.
Sekar Kathiresan is director of the Center for Genomic Medicine at the Massachusetts General Hospital in Boston, MA, United States of America.
Principal interest(s): Cardiovascular genetics
Area(s) of research: Genetics of myocardial infarction and plasma lipids
He will be giving a talk about “Genetic architecture of coronary artery disease, a common and complex disorder” on Sunday, May 28.
Principal interest(s): Cardiovascular genetics
Area(s) of research: Genetics of myocardial infarction and plasma lipids
He will be giving a talk about “Genetic architecture of coronary artery disease, a common and complex disorder” on Sunday, May 28.
Nicholas Katsanis is director of the Center for Human Disease Modeling, professor of Cell Biology and Brumley Distinguished Professor of Pediatrics at the Duke University in Durham, NC, United States of America.
Principal interest(s): Chronic complex genetic disorders, ciliopathies, neurodevelopment and neurodegeneration and undiagnosed rare congential disorders.
Area(s) of research: Research in CHDM focuses on the genetic basis of Bardet-Biedl Syndrome, where his laboratory is engaged in the identification of causative genes.
He will be giving a talk about “Oligogenic inheritance and mutational load” on Monday, May 29.
Principal interest(s): Chronic complex genetic disorders, ciliopathies, neurodevelopment and neurodegeneration and undiagnosed rare congential disorders.
Area(s) of research: Research in CHDM focuses on the genetic basis of Bardet-Biedl Syndrome, where his laboratory is engaged in the identification of causative genes.
He will be giving a talk about “Oligogenic inheritance and mutational load” on Monday, May 29.
Teri Klein is professor at the Stanford University in Stanford, CA, United States of America.
Principal interest(s): Personalized medicine
Area(s) of research: Pharmacogenetics and pharmacogenomics, genomic medicine, computational biology and bioinformatics
Principal interest(s): Personalized medicine
Area(s) of research: Pharmacogenetics and pharmacogenomics, genomic medicine, computational biology and bioinformatics
He will be a talk about “Pharmacogenomics Knowledge for Personalized Medicine” on Sunday, May 28.
Johannes Krause is director of the Max Planck Institute for the Science of Human History in Jena, Germany.
Principal interest(s): Genetic history, Archaeogenetics, Pathogen Evolution, Human Evolution, Ancient Microbiomes
Area(s) of research: Human and microbial genetics
He will be giving a talk about “Genetic time travel” on Monday, May 29.
Principal interest(s): Genetic history, Archaeogenetics, Pathogen Evolution, Human Evolution, Ancient Microbiomes
Area(s) of research: Human and microbial genetics
He will be giving a talk about “Genetic time travel” on Monday, May 29.
Nicolas Levy is professor at the Inserm UMR S910 – French National Institute of Health and Medical Research, Aix Marseille University in Marseille, France.
Principal interest(s): Laminopathies, Progeroid syndromes, Neuromuscular disorders
Area(s) of research: Translational research towards innovative therapies for rare diseases/Genomic medicine
He will be giving a talk about “Laminopathies” on Sunday, May 28.
Principal interest(s): Laminopathies, Progeroid syndromes, Neuromuscular disorders
Area(s) of research: Translational research towards innovative therapies for rare diseases/Genomic medicine
He will be giving a talk about “Laminopathies” on Sunday, May 28.
Erez Lieberman Aiden is assistant professor at the Baylor College of Medicine
in Houston, TX, United States of America.
Principal interest(s): DNA sequencing
Area(s) of research: 3D Genome sequencing
He will be giving a talk about “A 3D Code in the Human Genome” on Sunday, May 28.
in Houston, TX, United States of America.
Principal interest(s): DNA sequencing
Area(s) of research: 3D Genome sequencing
He will be giving a talk about “A 3D Code in the Human Genome” on Sunday, May 28.
Darío G. Lupiáñez is project group leader at the Max Planck Institute for Molecular Genetics and Berlin Center for Regenerative Therapies, Charité Universitätsmedizin in Berlin, Germany.
Principal interest(s): Chromatin arquitecture, gene regulation, developmental biology, human genetics
Principal interest(s): Chromatin arquitecture, gene regulation, developmental biology, human genetics
He will be giving a talk about “The CRISPR revolution: engineering structural variants to study disease” on Saturday, May 27.
Deborah Mackay is professor of Medical Epigenetics at the University of Southampton, Faculty of Medicine in Southampton, great Britain.
Principal interest(s): Genomic imprinting; epigenomics, genomics and diagnosis of imprinting disorders
She will be giving a talk about “Overview on imprinting related disease” on Saturday, May 27.
Principal interest(s): Genomic imprinting; epigenomics, genomics and diagnosis of imprinting disorders
She will be giving a talk about “Overview on imprinting related disease” on Saturday, May 27.
Elaine Mardis is co-executive director of the Institute for Genomic Medicine, Nationwide Children’s Hospital in Columbus, OH, United States of America.
Principal interest(s): Applying genomic technologies to achieve precision medicine
Area(s) of research: Genomic technology, computational biology
She will be giving a talk about “The Future of Genomic Medicine” on Saturday, May 27.
Principal interest(s): Applying genomic technologies to achieve precision medicine
Area(s) of research: Genomic technology, computational biology
She will be giving a talk about “The Future of Genomic Medicine” on Saturday, May 27.
Susan H McDaniel is Dr Laurie Sands Distinguished Professor of Families & Health at the University of Rochester Medical Center in Rochester, NY, United States of America.
Principal interest(s): Integrating behavioural health into healthcare; Family dynamics and genetic testing
Area(s) of research: Physician-patient communication
She will be giving a talk about “Family-systems approaches to risk, decision-making, and living with a genetic disorder ” on Monday, May 29.
Principal interest(s): Integrating behavioural health into healthcare; Family dynamics and genetic testing
Area(s) of research: Physician-patient communication
She will be giving a talk about “Family-systems approaches to risk, decision-making, and living with a genetic disorder ” on Monday, May 29.
Ramona Moldovan is lecturer at the Department of Psychology, Babeş-Bolyai University in Cluj-Napoca, Romania.
Principal interest(s): Genetic Counselling, Clinical Psychology, Cognitive and Behavioural Psychotherapy, Evidence Based Psychotherapies
She will be giving a talk about “The added value of psychotherapy in the genetic counselling process ” on Monday, May 29.
Principal interest(s): Genetic Counselling, Clinical Psychology, Cognitive and Behavioural Psychotherapy, Evidence Based Psychotherapies
She will be giving a talk about “The added value of psychotherapy in the genetic counselling process ” on Monday, May 29.
Kenneth Offit is chief of the Clinical Genetics Service at the Memorial Sloan Kettering Cancer Center in New York, NY, United States of America.
Principal interest(s): Cancer Susceptibility Genetics, Clinical Cancer Genetics
He will be giving a talk about “Two decades after BRCA: setting paradigms in personalized cancer care and prevention” on Saturday, May 27.
Principal interest(s): Cancer Susceptibility Genetics, Clinical Cancer Genetics
He will be giving a talk about “Two decades after BRCA: setting paradigms in personalized cancer care and prevention” on Saturday, May 27.
Bogdan Pasaniuc is assistant professor at the University of California in Los Angeles, CA, United States of America.
Principal interest(s): Human Genetics
Area(s) of research: Medical Population Genetics
He will be giving a talk about “Integration of eqtl and gwas to find susceptibility genes for complex traits” on Sunday, May 28.
Principal interest(s): Human Genetics
Area(s) of research: Medical Population Genetics
He will be giving a talk about “Integration of eqtl and gwas to find susceptibility genes for complex traits” on Sunday, May 28.
Matti Pirinen is assistant professor at the University of Helsinki in Helsinki, Finland.
Principal interest(s): Statistical Genetics
He will be giving a talk about “Efficient methods for finemapping” on Sunday, May 28.
Principal interest(s): Statistical Genetics
He will be giving a talk about “Efficient methods for finemapping” on Sunday, May 28.
Munir Pirmohamed is professor at the Institute of Translational Medicine, University of Liverpool in Liverpool, Great Britain.
He will be giving a talk about “Implementation of pharmacogenomics in the clinic” on Sunday, May 28.
He will be giving a talk about “Implementation of pharmacogenomics in the clinic” on Sunday, May 28.
Jennifer Posey is assistant professor at the Baylor College of Medicine in Houston, TX, United States of America.
Principal interest(s): The application of whole exome sequencing to identify novel disease genes and explore relationships between individual genotype and phenotypic expression.
Area(s) of research: The impact of multilocus genomic variation on phenotypic expression; the molecular basis of orthostatic intolerance; the utility of genomic and metabolomics studies in personalized medicine.
She will be giving a talk about “Multiple molecular diagnoses underlie some cases of apparent phenotypic expansion” on Monday, May 29.
Principal interest(s): The application of whole exome sequencing to identify novel disease genes and explore relationships between individual genotype and phenotypic expression.
Area(s) of research: The impact of multilocus genomic variation on phenotypic expression; the molecular basis of orthostatic intolerance; the utility of genomic and metabolomics studies in personalized medicine.
She will be giving a talk about “Multiple molecular diagnoses underlie some cases of apparent phenotypic expansion” on Monday, May 29.
Nataša Pržulj is professor at the University College London in London, Great Britain.
Principal interest(s): Biomedical Data Science
Area(s) of research: Precision medicine, Molecular networks analytics, data fusion
She will be giving a talk about “Mining biological networks” on Monday, May 29.
Principal interest(s): Biomedical Data Science
Area(s) of research: Precision medicine, Molecular networks analytics, data fusion
She will be giving a talk about “Mining biological networks” on Monday, May 29.
Jeroen Raes is professor at the KU Leuven – VIB in Leuven, Belgium.
Principal interest(s): Microbiome
Area(s) of research: Microbiology, Omics, Systems Medicine
He will be giving a talk about “Host-microbe interaction” on Monday, May 29.
Principal interest(s): Microbiome
Area(s) of research: Microbiology, Omics, Systems Medicine
He will be giving a talk about “Host-microbe interaction” on Monday, May 29.
Anita Rauch is professor of Medical Genetics at the University of Zurich in Schlieren-Zurich, Switzerland.
Principal interest(s): Genotype-Phenotype correlation in developmental disorders
Area(s) of research: Intellectual disability, rare disorders, prenatal diagnostics
She will be giving a talk about “Clinical Exomes” on Monday, May 29.
Principal interest(s): Genotype-Phenotype correlation in developmental disorders
Area(s) of research: Intellectual disability, rare disorders, prenatal diagnostics
She will be giving a talk about “Clinical Exomes” on Monday, May 29.
Andrew Read is Emeritus Professor of Human Genetics at the Centre for Genomic Medicine, University of Manchester in Manchester, Great britain.
Principal interest(s): Service development
Area(s) of research: Molecular pathology
He will be giving a talk about “A brief history of how we got here” on Saturday, May 27.
Principal interest(s): Service development
Area(s) of research: Molecular pathology
He will be giving a talk about “A brief history of how we got here” on Saturday, May 27.
Romeo Ricci is full professor at the IGBMC in Illkirch, France.
Area(s) of research: Cell Biology, Cellular Signalling, Autophagy, Diabetes, Inflammation
He will be giving a talk about “Autophagy in metabolic processes” on Monday, May 29.
Area(s) of research: Cell Biology, Cellular Signalling, Autophagy, Diabetes, Inflammation
He will be giving a talk about “Autophagy in metabolic processes” on Monday, May 29.
Marylyn Ritchie is director of the Biomedical and Translational Informatics Institute, Geisinger Health System in Danville, PA, United States of America.
Principal interest(s): Translational Bioinformatics, Computational Genomics
Area(s) of research: Bioinformatics, human genetics/genomics
She will be giving a talk about “Methods of integrating genomics data” on Sunday, May 28.
Principal interest(s): Translational Bioinformatics, Computational Genomics
Area(s) of research: Bioinformatics, human genetics/genomics
She will be giving a talk about “Methods of integrating genomics data” on Sunday, May 28.
Stephen Robertson is professor of Paediatric Genetics at the University of Otago in Dunedin, New Zealand.
Principal interest(s): Genetics of Developmental Disorders
Area(s) of research: Skeletogenesis, neurogenesis
He will be giving a talk about “Filaminopathies” on Sunday, May 28.
Principal interest(s): Genetics of Developmental Disorders
Area(s) of research: Skeletogenesis, neurogenesis
He will be giving a talk about “Filaminopathies” on Sunday, May 28.
Nilesh J Samani is professor of Cardiology at the University of Leicester
in Leicester, Great Britain.
Principal interest(s): Cardiovascular Medicine
Area(s) of research: Cardiovascular genetics
He will be giving a talk about “Implications of understanding the genetic basis of coronary artery disease” on Monday, May 29.
in Leicester, Great Britain.
Principal interest(s): Cardiovascular Medicine
Area(s) of research: Cardiovascular genetics
He will be giving a talk about “Implications of understanding the genetic basis of coronary artery disease” on Monday, May 29.
Gijs Santen is clinical geneticist at the Leiden University Medical Center in Leiden, The Netherlands.
Principal interest(s): NGS, dysmorphology
Area(s) of research: NGS applications; Coffin-Siris syndrome
He will be giving a talk about “Fast-WES for neonates, how useful is it really?” on Monday, May 29.
Principal interest(s): NGS, dysmorphology
Area(s) of research: NGS applications; Coffin-Siris syndrome
He will be giving a talk about “Fast-WES for neonates, how useful is it really?” on Monday, May 29.
Ravi Savarirayan is professor and consultant clinical geneticist at the Murdoch Childrens Research Institute in Melbourne, Australia.
Principal interest(s): Translational research, clinical trials, skeletal dysplasias, equity of access to new genetic technologies
He will be giving a talk about “Emerging targeted drug therapies in skeletal dysplasias” on Sunday, May 28.
Principal interest(s): Translational research, clinical trials, skeletal dysplasias, equity of access to new genetic technologies
He will be giving a talk about “Emerging targeted drug therapies in skeletal dysplasias” on Sunday, May 28.
Richard Scott is clinical leader for Rare Disease at the Genomics England in London, Great britain.
Principal interest(s): Rare disease genomics
Area(s) of research: Rare disease genomics; rare multisystem childhood syndromes; intellectual disability; early onset epilepsy
He will be giving a talk about “Medical genome sequencing in the 100,000 Genomes Project Rare Disease Programme” on Saturday, May 27.
Principal interest(s): Rare disease genomics
Area(s) of research: Rare disease genomics; rare multisystem childhood syndromes; intellectual disability; early onset epilepsy
He will be giving a talk about “Medical genome sequencing in the 100,000 Genomes Project Rare Disease Programme” on Saturday, May 27.
Christopher Semsarian is professor at the Faculty of Medicine, University of Sydney, Cardiologist at the Royal Prince Alfred Hospital and
head of the Molecular Cardiology Program at the Centenary Institute
Australia in Sydney, Australia.
head of the Molecular Cardiology Program at the Centenary Institute
Australia in Sydney, Australia.
He will be giving a talk about “Sudden Cardiac Death in the Young” on Monday, May 29.
Carmine Settembre is assistant Investigator at the Telethon Institute of Genetics and Medicine in Naples, Italy.
Principal interest(s): Autophagy, Skeleton, Lysosome, Metabolic disorders
Area(s) of research: Genetics, cell biology
He will be giving a talk about “Autophagy gets to the bone” on Monday, May 29.
Principal interest(s): Autophagy, Skeleton, Lysosome, Metabolic disorders
Area(s) of research: Genetics, cell biology
He will be giving a talk about “Autophagy gets to the bone” on Monday, May 29.
Amitabh Sharma is assistant professor of Medicine at the Channing Division of Network Medicine, Brigham and Women’s Hospital and Harvard Medical School in Boston, MA, United States of America.
Principal interest(s): Network Medicine, systems biology, Network Science, Complex network
Area(s) of research: Network Medicine, Asthma and COPD systems biology, Disease classification using multilayer networks, Multiplex networks in biology
He will be giving a talk about “Cellular Networks and Human diseases” on Monday, May 29.
Principal interest(s): Network Medicine, systems biology, Network Science, Complex network
Area(s) of research: Network Medicine, Asthma and COPD systems biology, Disease classification using multilayer networks, Multiplex networks in biology
He will be giving a talk about “Cellular Networks and Human diseases” on Monday, May 29.
Michael E. Talkowski is associate professor at the Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Broad Institute in Boston, MA, United States of America.
Dr. Talkowski’s research seeks to better understand the genetic etiology of complex neurodevelopmental and neuropsychiatric disorders. His group integrates molecular and computational genomics approaches to understand the functional consequences of genomic variation, with a particular interest in the relationship between genome structure and function.
He will be giving a talk about “Introducing the emerging era of ‘Cytogenomics’” on Sunday, May 28.
Dr. Talkowski’s research seeks to better understand the genetic etiology of complex neurodevelopmental and neuropsychiatric disorders. His group integrates molecular and computational genomics approaches to understand the functional consequences of genomic variation, with a particular interest in the relationship between genome structure and function.
He will be giving a talk about “Introducing the emerging era of ‘Cytogenomics’” on Sunday, May 28.
Nektarios Tavernarakis is professor and research director at the Institute of Molecular Biology and Biotechnology, Foundation for Research and Technology – Hellas in Heraklion, Crete, Greece.
Principal interest(s): Apoptosis, Autophagy, Caenorhabditis elegans, Cell death, Mitochondria, Necrosis, Neurodegeneration, Senescence, Stress
Area(s) of research: Ageing, Cell Biology, Genetics, Metabolism, Molecular Biology, Neurobiology, Physiology
He will be giving a talk about “Autophagy in neurodegeneration and ageing” on Monday, May 29.
Principal interest(s): Apoptosis, Autophagy, Caenorhabditis elegans, Cell death, Mitochondria, Necrosis, Neurodegeneration, Senescence, Stress
Area(s) of research: Ageing, Cell Biology, Genetics, Metabolism, Molecular Biology, Neurobiology, Physiology
He will be giving a talk about “Autophagy in neurodegeneration and ageing” on Monday, May 29.
Amalio Telenti is chief data scientist at the Human Longevity Inc. in San Diego, CA, United States of America.
Principal interest(s): Large scale Human Genomics
Area(s) of research: Non-coding genome and gene essentiality
He will be giving a talk about “Deep Sequencing of 10,000 Human Genomes” on Saturday, May 27.
Principal interest(s): Large scale Human Genomics
Area(s) of research: Non-coding genome and gene essentiality
He will be giving a talk about “Deep Sequencing of 10,000 Human Genomes” on Saturday, May 27.
Mark Thomas is Professor of Evolutionary Genetics at the Research Department of Genetics, Evolution and Environment, University College London in London, Great Britain.
Principal interest(s): Human evolutionary genetics
Area(s) of research: Genetics / evolution / ancient DNA / cultural evolution
He will be giving a talk about “The origins of farming” on Monday, May 29.
Principal interest(s): Human evolutionary genetics
Area(s) of research: Genetics / evolution / ancient DNA / cultural evolution
He will be giving a talk about “The origins of farming” on Monday, May 29.
Zlatko Trajanoski is professor at the Medical University of Insbruck in Innsbruck, Austria.
Principal interest(s): Cancer immunology, computational biology
Area(s) of research: Tumor-immune cell interaction
He will be giving a talk about “Dissecting tumor-immune cell interactions using genomics tools” on Monday, May 29.
Principal interest(s): Cancer immunology, computational biology
Area(s) of research: Tumor-immune cell interaction
He will be giving a talk about “Dissecting tumor-immune cell interactions using genomics tools” on Monday, May 29.
Barbara Treutlein is assistant professor at the Technical University Munich and Max Planck Institute for Evolutionary Anthropology in Leipzig, Germany.
Area(s) of research: Single-cell genomics, human development, 3D organoid systems, brain development and evolution
She will be giving a talk about “Dissecting human and chimpanzee cerebral organoids using single-cell RNA-seq” Monday, May 29.
Area(s) of research: Single-cell genomics, human development, 3D organoid systems, brain development and evolution
She will be giving a talk about “Dissecting human and chimpanzee cerebral organoids using single-cell RNA-seq” Monday, May 29.
Silvère van der Maarel is professor of Medical Epigenetics and head of the Department of Human Genetics at the Leiden University Medical Center in Leiden, The Netherlands.
Area(s) of research: Facioscapulohumeral dystrophy (FSHD), Epigenetics
He will be giving a talk about “Genetic and epigenetic regulation of repetitive DNA in relation to disease” on Monday, May 29.
Area(s) of research: Facioscapulohumeral dystrophy (FSHD), Epigenetics
He will be giving a talk about “Genetic and epigenetic regulation of repetitive DNA in relation to disease” on Monday, May 29.
Joris Vermeesch is professor at the KU Leuven in Leuven, Belgium.
Principal interest(s): Cytogenetics, Structural variation, preimplantation genetics and prenatal genetics, gene discovery
Area(s) of research: Preimplantation and prenatal technology, early human development, structural variation, technology
He will be giving a talk about “Haplarithmisis for human embryo selection” on Monday, May 29.
Principal interest(s): Cytogenetics, Structural variation, preimplantation genetics and prenatal genetics, gene discovery
Area(s) of research: Preimplantation and prenatal technology, early human development, structural variation, technology
He will be giving a talk about “Haplarithmisis for human embryo selection” on Monday, May 29.
Bente Vilsen is professor of Physiology at the Department of Biomedicine, Aarhus University in Aarhus, Denmark.
Principal interest(s): Membrane transporters including ion and lipid pumps
Area(s) of research: Na+,K+-ATPase structure, function and pathophysiology. Neurological disease caused by Na+,K+-ATPase mutations
He will be giving a talk about “Disruption of Na+ binding in alpha-3 Na+,K+-ATPase by neurological disease mutations and rescue by second-site mutation” on Sunday, May 28.
Principal interest(s): Membrane transporters including ion and lipid pumps
Area(s) of research: Na+,K+-ATPase structure, function and pathophysiology. Neurological disease caused by Na+,K+-ATPase mutations
He will be giving a talk about “Disruption of Na+ binding in alpha-3 Na+,K+-ATPase by neurological disease mutations and rescue by second-site mutation” on Sunday, May 28.
Axel Visel is senior staff scientist (LBNL) and deputy of science (JGI) at the Lawrence Berkeley National Laboratory (LBNL) and Joint Genome Institute (JGI) in Berkeley, CA, United States of America.
Principal interest(s): Genomics
Area(s) of research: Noncoding DNA, Functional Genomics
He will be giving his talk on Saturday, May 27.
Principal interest(s): Genomics
Area(s) of research: Noncoding DNA, Functional Genomics
He will be giving his talk on Saturday, May 27.
Dagan Wells is professor at the University of Oxford in Oxford, United Kingdom.
Principal interest(s): Preimplantation genetic diagnosis, embryology, gametogenesis, cytogenetics
Area(s) of research: Analysis of single cells, genetic diagnostics, preimplantation development
He will be giving a talk about “Karyo- and Meio-mapping for human embryo selection” on Monday, May 29.
Principal interest(s): Preimplantation genetic diagnosis, embryology, gametogenesis, cytogenetics
Area(s) of research: Analysis of single cells, genetic diagnostics, preimplantation development
He will be giving a talk about “Karyo- and Meio-mapping for human embryo selection” on Monday, May 29.
Alexandra Zhernakova is medical doctor, PhD and Rosalind Franklin Fellow at the Department of Genetics, University Medical Center Groningen in Groningen, The Netherlands.
Principal interest(s): Role of genetic and environmental factors in predisposition to common diseases
Area(s) of research: Autoimmune genetics, microbiome, gut health, aging
She will be giving a talk about “Genetics of the microbiome” on Monday, May 28.
Principal interest(s): Role of genetic and environmental factors in predisposition to common diseases
Area(s) of research: Autoimmune genetics, microbiome, gut health, aging
She will be giving a talk about “Genetics of the microbiome” on Monday, May 28.