Phelan McDermid Syndrome Foundation
Phelan McDermid Syndrome Foundation
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More about this organization
Mission
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.
About
RESEARCH SUPPORT: The PMSF Research program was established to improve the quality of life for individuals and families affected by PMS by fostering sound genetic, biological, and medical research related to the cause, effects, diagnosis, and effective treatments of PMS. The goal is to increase stakeholder understanding of the Phelan-McDermid syndrome diagnosis, the genotype-phenotype correlations, natural history, biomarkers, and therapeutics. PMSF is supported by an international Scientific Advisory Committee and has developed strategic partnerships in the research and rare disease community to find ways to generate, support, and sustain the advancement of research in the areas of genetics, neurology, biology, and other disciplines that would benefit those affected by PMS. Central to the Research program, PMSF developed and maintains the largest patient data registry in the world. PMSF enables families to participate in research by sharing de-identified patient data and helping with research study recruitment to further the understanding of and research in PMS.
