The Phelan-McDermid Syndrome Foundation is the leading non-profit organization in the world that advocates for those affected by the rare genetic condition called Phelan-McDermid Syndrome (PMS). Our mission is to offer family support, facilitate research and raise awareness of PMS.
We are committed to connecting families, researchers, decision-makers and stakeholders and advocating for the special needs and rare disease communities.
The first Support Group meeting was organized in Greenville, South Carolina, in 1998 by Dr. Katy Phelan. Families representing 20 of the first identified cases were came together in the first multi-patient conference. In 2002, parent volunteers formed the Phelan-McDermid Syndrome Foundation, named after Dr. Phelan and Dr. Heather McDermid, who were among the first researchers to describe the clinical and molecular features of PMS.
Since then, more than 1,300 cases have been identified worldwide with more cases being diagnosed through microarray and other forms of genetic testing. The prevalence of those with Phelan-McDermid Syndrome is estimated to be between 1 in 10,000 and 1 in 20,000 babies born. There is no cure, but it is our goal to find effective therapies to help those with PMS, and, eventually, a cure.
Foundation membership is free and offers many benefits: Meeting families going through the same experiences, fostering research and scientific awareness, making an impact on important issues, staying in touch with the Foundation and joining a growing international community.
Our Global Partners program has built strong relationships with PMS groups around the world. Current associations are in place in Spain, Great Britain and Australia and other associations will be finalized in the near future.
The Phelan-McDermid Syndrome Foundation is funded by donations from families, friends and members. We are transparent about our financial information and we post audits and 990 tax returns on our Web site. Your donations are critical to fulfilling our mission.
The PMS Foundation is:
-- A 501(c)3 non-profit.
-- Governed by a Board of Directors and its bylaws. Duties are divided among committees staffed by volunteers: Communications and Web Site; Conference; Finance; Fund-raising; Legislative and Advocacy; Membership; Registry and Repository; and Research Support.
-- Based in Venice, Florida. Our office is staffed by an Executive Director; Business Manager; and a Family Support Services and Membership Coordinator.
-- A key connection between families through our biennial international conference, social media, newsletter, research efforts, regional meetings and fund-raising events.
The Foundation supports research into realted to Phelan-McDermid Syndrome. PMS is caused by deletions of 22q13 and mutations of the SHANK3 gene. PMS is associated with developmental disability, autism, hypotonia and seizures.
Our research goals are to fund projects that increase understanding of PMS and what causes the disease, speed up the development of targeted therapies and improve the care of people with PMS. We seek to fund critical gap areas, through which our investment can stimulate other investments.
In addition to grants and fellowships for basic, translational and clinical research projects, PMSF funds and operates the Phelan-McDermid Syndrome International Registry, a web-based repository of genetic and phenotypic data about individuals with PMS.
We strive for the highest levels of patient engagement, whether through opportunities for individuals with PMS to participate in clinical research studies and clinical trials or by involving families in research projects.