Phelan-McDermid Syndrome Foundation

Non-profit OrganizationsFlorida, United States11-50 Employees

The Phelan-McDermid Syndrome Foundation (PMSF) is the leading organization worldwide that advocates for those affected by the rare genetic condition known as Phelan-McDermid Syndrome (22q13 deletion syndrome). The mission of the Foundation and its Board of Directors is to offer family support, accelerate research as well as raise awareness of PMS. We are committed to educating families by providing them with tools to improve the quality of life for those diagnosed with PMS, from children to adults. We work closely with researchers who study PMS and its related conditions –– autism, epilepsy, seizures –– to advance the body of knowledge in the medical community about how to treat those with PMS. We champion all those in the special needs and rare disease communities. The PMS Foundation is a 501(c)3 volunteer-run non-profit based in Venice, Florida. It is funded through generous donations from families, friends and supporters. 

Phelan-McDermid Syndrome is caused by deletions and mutations of the SHANK3 gene and others. PMS is associated with developmental disability, autism, epilepsy and seizures. More than 1,300 cases of PMS have been identified worldwide with more cases being diagnosed daily through microarray and other forms of genetic testing. The Foundation’s goal is to find effective clinical therapies and eventually a cure. 

The PMS Foundation sponsors the only international biennial conference and scientific symposium for those affected by PMS. 

The PMS Foundation advocates for inclusion and awareness of all those affected by genetic-based disabilities. 

Foundation membership is free. Our Global Partners program links PMS groups around the world. Current associations are in place in Spain, Great Britain, France and Australia. 

The Phelan-McDermid Syndrome Foundation, named after Dr. Katy Phelan and Dr. Heather McDermid, who were among the first researchers to describe the clinical and molecular features of Phelan-McDermid Syndrome.

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