A diagnosis for all rare genetic diseases: The horizon and next frontiers – Prestige Conference, Moderna Series
We are delighted to welcome Dr. Kim Boycott to our Prestige Conference, Moderna Series on Monday, October 16, 2023. For the conference, Dr. Boycott has three learning objectives:
- Define the paradigm shift in the approach to rare diseases since the introduction of genome-wide sequencing analysis;
- Summarize the impact, benefits and challenges of integrating bioinformatics, new technologies, global data sharing strategies and functional studies on the discovery of new causes of rare diseases; and
- Propose a clinical and research workflow for how to investigate patients with undiagnosed rare diseases.
Monday October 16, 2023 – 4 p.m.
4 p.m. to 5 p.m.: Amphitheatre
5 p.m. to 6 p.m.: Networking event at the agora – with non-alcoholic cocktails and beers and snacks.
CRCHUM Amphitheatre 900, Saint-Denis Street, 5th floor
R05.212A and R05.212B
To help us with planning, please register here:Register for the conference
*The conference will be in-person.
About Dr. Boycott
Kym Boycott, MD, PhD, FRCPC
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), Chair of the Department of Genetics, 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 part of the Global Commission to End the Diagnostic Odyssey for Children.
About CRCHUM's Prestige conferences
The CRCHUM Prestige Conferences are presented by world-renowned speakers in their field of expertise. This conference is part of the Moderna Series.
This Prestige conferences offer a broad perspective on a scientific topic in a language that is clear and accessible to all participants. They are mainly aimed at the scientific community, including participants who have no prior knowledge of the topic.
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A diagnosis for all rare genetic diseases: The horizon and next frontiers – Prestige Conference, Moderna Series
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