Identification of genetic causes of rare diseases in Quebec (PRISMES project)

The goal of the study is to identify the genetic causes of rare diseases in Quebec (PRISMES project). Families affected with a rare disease are recruited in an interdisciplinary research program designated "Programme de Recherche et Innovation Sur les Maladies rarES" (PRISMES) at the CHU de Quebec - Universite Laval (CHUQC-UL) Research Centre. PRISMES essentially aims to recruit pediatric patients and their affected/unaffected family members as a trio or more with the aim of investigating the genetic causes responsible for their disease. Recruited patients are affected with rare neuromuscular, neurodegenerative, metabolic or polymalformative syndrome, which remained undiagnosed at the molecular level.