We have breaking news! Jaguar Gene Therapy has received approval from the FDA to conduct a gene therapy clinical trial in Phelan-McDermid syndrome. This is a major milestone for our community and for drug development in Phelan-McDermid syndrome! This will be the first trial aiming to target genetic underpinnings of Phelan-McDermid syndrome.
A large percentage (~75-80%) of people with a Phelan-McDermid syndrome diagnosis also have a diagnosis of autism spectrum disorder. This article…
We are very pleased to announce that the Foundation is bringing Dr. Tesi (Teresa) Kohlenberg on part time to assist our Family Support Specialist, Carla D’Imperio, in helping families whose loved ones have neuropsychiatric illness.
What is SHANK3? SHANK3 is a gene that is important for the development and function of the nervous system. Genes are…
PMSF announced a research grants program in January 2023 to provide funding to highly motivated scientists studying Phelan-McDermid syndrome. Our goal…
PMSF Releases the first in a series of Quick Resource Cards by Diane Linnehan, Director of Operations and Jenn Carter, Mom…
Our podcast is now available on major platforms, with a new episode posted on the 22nd of each month!by Dr. Kate…
Dr. Sheng-Nan Qiao at Yale University applied to study the link between brain inflammation and regression (loss of skills) in PMS. The funded project focuses on approaches for reducing neuro-inflammation when modeling Phelan-McDermid syndrome in the laboratory.
