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- Consortium for Rare Disease, Research Day
null Consortium for Rare Disease, Research Day
Date: February 28, 2023
Time: 8:30 – 12:00 p.m.
Location: Drs Sylvia & Richard Cruess Amphitheatre, E.S1.1129, RI-MUHC Glen site or via Zoom (Hybrid event)
Registration: Please register here
Information about the event: michelle.marquis [at] muhc.mcgill.ca
Agenda
8:30 – 9:00 Arrival & Registration for in-person members, Zoom log-in for remote attendees. Coffee & tea will be provided in the RI-MUHC Atrium
9:00 – 9:15 Introductions & Opening remarks. Update on MUHC-CRDR and Québec landscape for rare diseases. Dr. Don Vinh, Executive Committee
9:15 – 9:35 La prise en charge des maladies rares chez l'INESSS, Dre Michèle de Guise, INESSS
9:35 – 9:55 Recent discovery of GAA FGF14 as a common cause of late-onset ataxia, Dr. Bernard Brais, (McGill University)
9:55 – 10:15 Geneviève Solomon, (APIQ)
10:15 – 10:35 Health Break, RI-MUHC Atrium
10:35 – 10:55 Pedagogic needs, RareDIG's role and the transformation they would want to see, Gregory Mikerov, (RareDIG president)
10:55 – 11:15 Possible therapeutic for TANGO2 deficiency disorder, Dr. Michael Sacher, Concordia University
11:15 – 11:35 Parent testimonial - title to be confirmed. Emilie Donovan
11:35 – 11:55 Next Steps and Closing Remarks Executive Committee
12:00 End of event