PRESENTATION TITLE

A Diagnosis for All Rare Genetic Diseases: The Horizon and Next Frontiers

PRESENTER(S)
Kym Boycott, MD, PhD

PRESENTER BIO

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 helps bridge 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.

LEARNING OBJECTIVES 
After the presentation, attendees will be able to:

• 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

• Propose a clinical and research workflow for how to investigate patients with undiagnosed rare genetic disease

ATTENDANCE / CREDIT
Text the session code (provided only at the session) to 507-200-3010 within 48 hours of the live presentation to record attendance. All learners are encouraged to text attendance regardless of credit needs. This number is only used for receiving text messages related to tracking attendance. Additional tasks to obtain credit may be required based on the specific activity requirements and will be announced accordingly. Swiping your badge will not provide credit; that process is only applicable to meet GME requirements for Residents & Fellows.

TRANSCRIPT
Any credit or attendance awarded from this session will appear on your Transcript.

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