Sponsored by HGSA
Kym Boycott 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) and a Senior Scientist at the CHEO Research Institute. Dr. 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 integrating genomic and other –omic technologies to improve our understanding of rare disease, with a particular focus on solving the unsolved and most difficult rare diseases. To leverage these discoveries, she co-leads the Canadian Rare Diseases: Models & Mechanisms Network, established to catalyze connections between newly discovered rare disease genes and basic scientists who can rapidly study them in model systems. Globally, she moves the rare disease agenda forward as a Steering Committee member for the Global Alliance for Genomics and Health.
Co-Sponsored by ASDG
Assistant Professor of Pathology, Harvard Medical School, Assistant Director of Cytogenetics, Brigham & Women's Hospital, Boston, USA.
Dr Fletcher is a genetic pathologist whose main area of expertise is biochemical genetics. Until her retirement in 2020, she was the Clinical Director of Genetics and Molecular Pathology at SA Pathology. She trained in Sydney and Melbourne as a paediatrician and geneticist, which included working at the Murdoch Institute under Professor David Danks. Her MD thesis was on ketone turnover in children with MCAD deficiency, the commonest fatty acid oxidation defect. She subsequently qualified as a Genetic Pathologist. Dr Fletcher has an international reputation in the areas of newborn screening, diagnosis and clinical management of inborn errors of metabolism. She is the co-chair of the Scientific Program Committee of the International Organising Committee for the International Congress of IEM and the Australian communicating member for the Society for the Study of Inborn Errors of Metabolism (UK). Her research has focussed on diagnosis and therapies for inborn errors of metabolism; she is a previous NHMRC grant holder.
Dr Fletcher is passionate about improving healthcare by the use of innovations in genetic testing and the need to improve genetic literacy of health professionals and the community, to best use knowledge of the molecular basis of disease. She is a current member of the Medical Services Advisory Committee, the Therapeutic Goods Administration Advisory Committee on Medicines and the New Zealand government PHARMAC Rare Diseases subcommittee.
Hamish is head of the Department of Genetics and Molecular Pathology (since 2009), at the Centre for Cancer Biology, an alliance between SA Pathology & the University of South Australia. He is a Founding Fellow of the Faculty of Science (FFSc) of the RCPA and a Fellow of the Australian Academy of Health and Medical Sciences (FAHMS). He is co-Director of the Centre for Cancer Biology’s ACRF Cancer Genomics Facility, and a Beat Cancer Principal Research Fellow of the Cancer Council of SA. His passion is translational research, linking research to diagnostics and clinical translation. As such, he is a national and international scientific leader in identification of germline mutations in families and patients that predispose them to blood cancers, somatic mutations to monitor their disease and animal models of these diseases. He is helping establishing new basket and umbrella clinical trials for blood cancers with unmet clinical need, which may include predisposed patients. He is a co-leader of a national study to identify genetic causes of perinatal death (in collaboration with the Broad Institute) and explore if genomic autopsies should be part of standard of care for stillbirth.
Co-Sponsored by AACG
Dr. Brigitte Widemann is a pediatric oncologist with the primary interest of developing effective therapies for children and adults with genetic tumor predisposition syndromes, such as neurofibromatosis type 1 (NF1), and rare solid tumors through innovative clinical trial design. Dr. Widemann currently serves as the head of the Pharmacology & Experimental Therapeutics Section and as Chief of NCI’s Pediatric Oncology Branch.Anticancer drug discovery and development are moving towards a more rational and targeted approach. The application of new molecularly targeted agents to the treatment of childhood cancers and neurofibromatosis type 1 (NF1) is a research objective of the Pharmacology & Experimental Therapeutics Section (PETS). In addition to studying the pharmacology, pharmacokinetics, pharmacodynamics, and toxicities of these novel agents, it is also a goal of the PETS to evaluate novel clinical trial designs and trial endpoints, which may be more applicable for molecularly targeted agents.
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