Phelan-McDermid Syndrome (PMS) is caused by a deletion or other structural change of the terminal end of chromosome 22q13 or a disease-causing mutation of the SHANK3 gene. PMS is associated with developmental disability, autism, epilepsy, and seizures. More than 1,500 cases of PMS have been identified worldwide with more cases being diagnosed daily through microarray and other new forms of genetic testing.
The American PMS Foundation’s goal is to find effective clinical therapies and eventually a cure. In 2010, they launched a strategic plan for science in order to accelerate Phelan-McDermid Research.
The growth both within the PMSF and research communities has been astronomical in the past few years. PMSF has contributed to the growth through grants and fellowships, advocacy, engaging families in research initiatives, and establishing relationships with researchers and funders worldwide. To find out more information into PMS research, visit the research page of the PMSF website.