The researchers Jacques L. Michaud (CHU Ste-Justine), Jacek Mejewski (Université McGill) and Guy A. Rouleau (CHU Ste-Justine) have discovered mutations in TMEM231 causing Joubert syndrome, a rare desease in French Canadian population.

Read more in the Journal of Medical Genetics, October 15, 2012.


The project is part of the FORGE Canada Consortium and the exome sequencing has been done at the McGill University and Génome Québec Innovation Centre.