Dr. Katy Phelan - The History of Phelan-McDermid syndrome and the Foundation
Description
Kate chats with Dr. Katy Phelan, Scientific Advisor to the Foundation, namesake for the syndrome, and co-Founder of the Phelan-McDermid Syndrome Foundation (PMSF). They discuss her work identifying the first case of Phelan-McDermid syndrome, and the story behind her efforts to gather families. With the help of Co-founders Sue Lomas, Curtis Rogers and Nick Assendelft, this led to the establishment of a community, and ultimately the Foundation. Katy reflects on her favorite memories, her role now, and describes the evolution of genetic understanding of Phelan-McDermid syndrome over the years.
2022 Founders presentation: https://www.youtube.com/watch?v=BpECSEFxuSc
Genetic testing guide in Phelan-McDermid syndrome: https://pmsf.org/diagnosis/
United States
