Les étudiant.es du CERMO-FC vous présenteront en direct l'avancée de leurs travaux de recherche. Une période de questions pour l'auditoire en présentiel et en virtuel aura lieu à la fin de chaque longue présentation.

Les étudiant.es du CERMO-FC présenteront en mode virtuel uniquement leur affiche de résultats de recherche. Dans des salles virtuelles individuelles, il vous sera possible de communiquer en direct avec l'étudiant.e qui présente son sujet.

Progress toward the discovery of the genetic basis of every rare disease (RD) has been substantial over the past decade secondary to the introduction of genome-wide sequencing. However, as many as half of children affected with a RD are still without a molecular diagnosis. In addition, effective therapies for RDs are themselves comparatively rare. This presentation will discuss the expanding opportunities as well as challenges for RDs and highlight some of Canada’s national collaborative platforms responding to this evolving RD space. For the past 10 years ago, Canada has worked collaboratively as part of the Care4Rare Canada Consortium to identify causal genes for undiagnosed rare diseases. To facilitate broad sharing of information across the country we have launched a RD data lake called Genomics4RD, established to connect Canadian data with our international partners via Matchmaker Exchange and other global initiatives. To address the need for biological context for most rare disease genes, we established the Rare Diseases Models and Mechanisms Network to mobilize the Canadian biomedical community of laboratory scientists and clinicians to work together to provide functional insights into RD. Most recently, we have developed a platform called My Studies, as part of the RareConnect social platform, designed to leverage the knowledge and experiences of RD patients and families by providing research opportunities no matter where they live via a secure web-based platform. Taken together, these platforms will accelerate scientific discovery and downstream clinical translation for patients and families affected by these often devastating conditions.

Les étudiant.es du CERMO-FC vous présenteront en direct l'avancée de leurs travaux de recherche. Une période de questions pour l'auditoire en présentiel et en virtuel aura lieu à la fin de chaque longue présentation.

Pour les personnes présentes sur place, ce moment permettra d'échanger sur la journée et développer de nouvelles collaborations de recherche.