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