External Scientific Advisory Board

Professor Gareth Baynam is the Medical Director of the Rare Care Centre and its state-wide clinical service based as the Perth Children’s Hospital; Head of the Western Australian Register of Developmental Anomalies (birth defects and cerebral palsy registers); Clinical Geneticist and Program Director of the Undiagnosed Diseases Program WA; Foundation Board Member of the Undiagnosed Diseases Network International; and Adjunct Genomics Policy Officer in the Western Australian Health Department. He is affiliated with the University of Western Australia; Curtin University; Murdoch University; Notre Dame University; Melbourne University; and Telethon Kids Institute.

Dr. Baynam is the Founder of an integrated suite of cross-sector and community engaging initiatives to improve the lives of people living with rare diseases including Project Y, Cliniface (3D facial analysis for rare diseases diagnosis, clinical trials and device design) and Lyfe Languages (Universal Indigenous Medical Translator). He has partnered with the Aboriginal health care leaders and communities in WA for over more than a decade to implement a range of state-wide initiatives to improve the equity for Indigenous people living with rare diseases. He Chairs and/or is one of the Executive or Advisories of multiple international rare diseases initiatives; and multiple National Institutes of Health in Europe, North America and Asia. He has personal connections to rare diseases.

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.

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.