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, quarterly 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. In 2009 we established our first office, in Venice, Fla., and hired our first part-time employee.