Scientists Discover Gene Behind Rare Disorders, McGill University Study

Scientists at the Montreal Neurological Institute and Hospital – The Neuro, McGill University working with a team at Oxford University have uncovered the genetic defect underlying a group of rare genetic disorders. Using a new technique that has revolutionized genetic studies, the teams determined that mutations in the RMND1 gene were responsible for severe neurodegenerative disorders, in two infants, ultimately leading to their early death. Although the teams' investigations dealt with an infant, their discovery also has implications for understanding the causes of later-onset neurological diseases.