Archives : June 2016

Targeted Next-Generation Sequencing and Genome-Wide Association Study of Parkinson’s disease patients in Quebec


After having contributed to the discovery and mapping of at least 20 loci (specific locations of an abnormal gene or DNA sequence on a chromosome) and identified more than 10 genes responsible for neurological diseases, Dr Guy Rouleau and his collaborators will use targeted next-generation sequencing using molecular inversion probes to fully sequence more than 50 genes in more than 30 genomic loci that are known or suspected to be involved in Parkinson’s Disease (PD).

At the same time, they will perform a genome wide association study using the NeuroX chip (Illumina Inc.). The aim is to analyze at least 2000 PD patients and 2000 controls. This approach will allow the research team to identify genetic variants that cause, or are associated with increased or decreased risk for, Parkinson’s Disease.

The genetic data could be used by the QPN researchers to perform genotype-phenotype studies, and to examine how genetics affect various clinical, biological and imaging variables in PD. Furthermore, the results will be compared to in-house data from patients with REM sleep behaviour disorder (RBD), in order to examine whether genetic factors are associated with conversion from RBD to PD.