It is the mission of the Phelan-McDermid Syndrome Foundation to improve the quality of life of people affected by PMS worldwide by providing family support, accelerating research and raising awareness.
The Phelan-McDermid Syndrome Foundation, established in 2002, is a 501(c)3 nonprofit group.
The syndrome, which affects people worldwide, is a result of a deletion of 22q13 or a Shank 3 mutation.
Our foundation is strongly focused on two complementary goals: Family Support and Research.
We facilitate connections among families through our website, monthly newsletter, Facebook, Twitter, regional gatherings and a biennial international conference. Our conference brings together families, therapists, caregivers and researchers.
We are working hard to help find effective therapeutics for people with Phelan-McDermid Syndrome. We fund important basic and translational science, a web-based patient registry, and scientific meetings.
The Phelan-McDermid Syndrome Foundation is governed by a Board of Directors.