External Scientific Advisory Board

Kym Boycott, M.D., Ph.D., FRCPC, FCCMG, is a Professor of Pediatrics at the University of Ottawa in Canada, where she is a clinical geneticist at the Children’s Hospital of Eastern Ontario (CHEO), Chair of the Department of Genetics, and a Senior Scientist at the CHEO Research Institute. Prof. Boycott is a Tier 1 Canada Research Chair in Rare Disease Precision Health whose research program bridges clinical genomics to basic research and is focused on understanding the molecular pathogenesis of rare diseases to improve patient care and family well-being. She leads the national Care4Rare Canada Consortium, established in 2010, integrating genomic and other ‘omics technologies to improve our understanding of rare diseases, focusing on solving the unsolved and most difficult rare diseases.

In 2013, Prof. Boycott co-established the Canadian Rare Diseases: Models & Mechanisms Network. The network aims to facilitate connections between clinical investigators discovering new genes and basic scientists who can analyze equivalent genes and pathways in model organisms. She has made significant strides towards advancing the international rare disease agenda in her capacity as the inaugural Chair of the Diagnostics Committee of the International Rare Diseases Research Consortium, member of the Global Alliance for Genomics and Health, and member of the Global Commission to End the Diagnostic Odyssey for Children. In recognition of her contributions, she was elected to the Royal Society of Canada in 2019.

Dr. Jill Fahrner is an Associate Professor in the Departments of Genetic Medicine and Pediatrics at the Johns Hopkins University School of Medicine. She is a physician-scientist with a long-standing interest in epigenetic mechanisms of disease. She is Director of the multidisciplinary Epigenetics and Chromatic Clinic, where her clinical focus is on caring for individuals with epigenetic and chromatin disorders. She has helped to delineate the Mendelian disorders of the epigenetic machinery (Chromatinopathies) as a distinct group and has seen hundreds of individuals with these conditions, most of which involve intellectual disability and abnormal growth. The goal of her laboratory research is to understand disease mechanisms and develop therapies for these disorders, including Weaver, Sotos, Beck-Fahrner, and Kabuki syndromes. She has helped lead the field in establishing mechanisms for abnormal growth and identified a potential epigenetic therapy to target overgrowth in Weaver syndrome. She recently delineated the first neurodevelopmental disorder of the DNA demethylation machinery, Beck-Fahrner Syndrome. She earned her PhD in Cellular and Molecular Medicine from Johns Hopkins and her MD from the University of North Carolina, and she completed Pediatrics residency training at Duke University Medical Center. She completed Clinical Genetics residency training and served as Chief Resident in the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins before joining the faculty as Assistant Professor. She is a long-standing member of the American Society of Human Genetics, having won an ASHG Reviewer’s Choice Abstract Award for her work on growth deficiency in Kubuki syndrome 1, and she currently serves on the ASHG Program Committee, on the editorial board of the American Journal of Medical Genetics Part A, on a National Organization for Rare Disorders (NORD) working group, and on multiple rare disease medical and scientific advisory boards, including the Beck-Fahrner Syndrome Foundation, the Sotos Syndrome Support Association (SSSA), the Malan syndrome Foundation, and the Widermann-Steiner Syndrome Foundation. She has received a Johns Hopkins School of Medicine Clinician Scientist Award, a Musculoskeletal Pilot and Feasibility Award, a William and Ella Owens Medical Research Foundation Award, the Margaret Ellen Nielsen Fellowship Award, and a prestigious Hartwell Foundation Individual Biomedical Research Award. Her research is supported by the National Institutes of Health, the Maryland Stem Cell Research Fund, and Johns Hopkins University Catalyst and Discovery Awards.

Professor David Genevieve, MD, PhD, is a clinical geneticist in the Montpellier Medicine Faculty and Montpellier University, expert in the field of rare disease in particular in chromatin disorders, intellectual disability and autoimmunity.
He is a member of the INSERM unit 1183. He is Head of the reference center for rare disease developmental anomaly and malformative syndrome CHU Montpellier and member of the European Reference network ERN ITHACA specialized in intellectual disability, developmental anomaly and malformative syndrome.

He is Head of an expertise platform for rare disease CHU Montpellier, Head of an out-of-hospital healthcare services for individuals with rare disease – Maladie Rares Occitanie (Occitanie region, 6 million people). Prof Genevieve is also the CEO of the French Society of Clinical Geneticists.  He is a member of the Scientific Advisory Board of Associations for People with Rare Diseases (Kabuki syndrome, PACS1 syndrome, X linked disorders – Xtraordinaires). He is co-founder and treasurer of the French Society for predictive and personalized medicine.

Dr. Tartaglia is Senior Scientist, and Head of the Molecular Genetics and Functional Genomics Research Unit and Genetics and Rare Diseases Research Division at the Ospedale Pediatrico Bambino Gesù, Rome, Italy. He is also Adjunct Associate Professor, Department of Pediatrics, at the Icahn School of Medicine at Mount Sinai, New York, NY. For 10 years, he served as Section Director at the Istituto Superiore di Sanità, the Italian National Health Institute.

Dr. Tartaglia and his team conduct research that employs molecular genetics- and genomics-based strategies to understand the molecular bases of diseases affecting development and growth, and identify genes with role in oncogenesis and predisposing to cancer. Research is also directed to comprehend the mechanisms of disease by using complementary in vitro approaches and animal models. A major focus of his research are RASopathies. His work has allowed the discovery of PTPN11 as the first gene implicated in Noonan syndrome and the identification of seven additional disease genes underlying this disorder and clinically related traits. More recently, his work has been directed at defining the genetic basis of other rare developmental disorders. Major discoveries include the identification of the disease genes underlying Myhre syndrome, Kaufman syndrome, Primrose syndrome, Zimmermann-Laband syndrome, and Fine-Lubinsky syndrome.

Dr. Tartaglia is coordinator of the transnational NSEuroNet Consortium, funded by E-Rare on 2009 and 2015, focused on the molecular bases of RASopathies.

Gunnar Houge, MD, PhD is a senior consultant and professor of clinical genetics in Norway with extensive expertise in rare disease diagnostics, genomic medicine, and molecular genetics. He currently leads the Precision Medicine Network of Western Norway (NorPreM-HV) and serves as Chair of the Norwegian node of ERN-ITHACA, the European Reference Network for rare congenital malformations and intellectual disability.

Dr. Houge is a former President and current Treasurer of the European Society of Human Genetics (ESHG). He has authored more than 175 peer-reviewed publications and has made significant contributions to the clinical interpretation of genomic variation, neurodevelopmental disorders, and precision medicine implementation at both national and European levels.