Dr. Rouleau’s landmark achievements are his contributions to the identification of dozens of disease-causing genes and his discovery of new mutational mechanisms. Over the last 25 years, Dr. Rouleau and his team have focused on understanding the genetic basis for diseases and identifying genes causing neurological and psychiatric diseases including amyotrophic lateral sclerosis, stroke, Essential Tremor, familial aneurysms, cavernous angiomas, epilepsy, spinocerebellar ataxia, spastic paraplegia, autism, Tourette syndrome, restless legs syndrome, schizophrenia and bipolar disorder.

Specifically for ALS, he has been investigating the genetic basis of this disease since 1986 and has contributed to the identification of many of the genes currently known to predispose to this disease.  He has published more than 700 articles in top peer-reviewed journals such as The Lancet, Cell, and Nature, as well as 50 review articles and book chapters. His work has been cited over 50,000 times.