Researchers at the Stanford University School of Medicine are conducting a research study to determine the core mechanisms of 15q Duplication Syndrome and identify therapeutic targets. We aim to do this by collecting skin and/or blood cells from individuals with 15q Duplication Syndrome and converting them to induced pluripotent progenitor (iPS) cells to study cellular phenotypes.
Dr. Thibert has spent the last 13 years at Massachusetts General Hospital, where he is a pediatric epileptologist and an Associate Professor of Neurology at Harvard Medical School. He earned his BS at the University of Notre Dame, MsPH at the University of Massachusetts School of Public Health, and DO from the Kansas City University of Medicine and Biosciences. He completed his pediatric training in the Henry Ford Health System, his pediatric neurology training at Tufts Medical Center and Boston Children’s Hospital, and his pediatric epilepsy training at Massachusetts General Hospital. He specializes in the treatment of seizures, focusing on those with autism and neurogenetic disorders, mainly 15q Duplication syndrome, Angelman syndrome, and Pitt Hopkins syndrome. In 2010, he started the first Dup15q clinic at Mass General Hospital and, to date, this clinic has seen over 125 families. He has been a member of the Dup15q Alliance Professional Advisory Board since 2011 and has co-authored several publications on Dup15q
Because of families who have considered the option of brain tissue donation, scientific researchers around the world have made enormous discoveries in understanding what goes on in the brains of people with autism, including those with Dup15q and autism. Specifically, how the brain looks different, functions differently, and what happens on a cellular level that can inform future treatments for ASD. This webinar will provide a short overview of these findings and answer questions about the Autism BrainNet and how crucial it is to the autism community, including those with Dup15q without autism.
Dr. David Fray has served people with intellectual disability for more than 40 years. He began this professional interest as a dental student assigned to a rotation in a large State School in Texas. His health and public service career has spanned five countries and five US States building healthy lives and systems of care for people with disabilities. Dr. Fray was in private dental practice for 14 years with an emphasis on the care of adults with intellectual disabilites. He is a board certified long-term care administrator. He is a Fellow in the International College of Dentists, Fellow in the American College of Dentists, Associate Professor at the University of Texas School of Dentistry at Houston in the Department of General Dentistry and Dental Public Health. He has been the State Director of Developmental Disabilities Services in Arkansas, Arkansas Children’s Medical Services, Director of the Arkansas Health Center, Chief of the Developmental Disabilities Division in Hawaii and led health teams for the United Nations’ World Health Organization in Asia. He is a board certified healthcare emergency planner serving in refugee relief internationally. He and his wife reside in Dallas Texas and are proud to have four grandchildren.