Lou Gehrig’s disease (ALS), stroke, epilepsy, autism, schizophrenia, and bipolar disorder—researchers have been trying for years to understand the genetic underpinnings of these neurological and psychiatric disorders. Guy Rouleau, MD, PhD, and his team at the Montreal Neurological Institute and Hospital are exploring a de novo mutation hypothesis, looking for new mutations associated with these conditions that occur in the sperm or egg that forms an individual.
Over the past few decades, they’ve created a biobank of more than 70,000 unique DNA samples collected by groups around the world. Working together, they’re using MiSeq and HiSeq Systems to sequence the samples, generating genotypic data associated with these diseases. In addition to whole-genome sequencing, they’re performing exome sequencing to identify mutations in protein encoding genes and RNA-Seq to determine differences in gene expression levels.