/newsroom/taxonomy/term/573/all en /newsroom/channels/news/quebec-siblings-rare-orphan-disease-lead-discovery-rare-genetic-diseases-296454 <p>Mutations in a gene involved in brain development have led to the discovery of two new neurodevelopmental diseases by an international team led by researchers at Â鶹AV and CHU Sainte-Justine Research Center.</p> <p>The first clues about the rare disorder arose after doctors were unable to diagnose why two siblings from QuĂ©bec City were experiencing seizures and neurodevelopmental deficits. Desperate, the children’s family turned to Carl Ernst at the Douglas Mental Health University Institute in Montreal for answers.</p> Thu, 25 Apr 2019 14:07:42 +0000 mona.noonoo@mail.mcgill.ca 159474 at /newsroom /newsroom/channels/news/new-insight-how-autism-might-develop-human-brain-287849 <p>In a study published in <em>Stem Cell Reports</em>, a Â鶹AV team of scientists led by Dr. Carl Ernst, researcher at the Douglas Hospital Research Centre, revealed a molecular mechanism that may play a role in the development of autism.</p> <p>By taking skin cells from patients and reprogramming those cells to become brain cells through genetic engineering, Dr. Ernst, graduate student Scott Bell, and Edward A. Fon and Thomas M. Durcan, colleagues at the Montreal Neurological Institute and Hospital, tracked how a brain cell with the patient’s own mutation develops improperly.</p> Tue, 26 Jun 2018 18:41:18 +0000 justin.dupuis@mcgill.ca 49265 at /newsroom