PMSF Research

Shown here with Dr Alex Kolevzon, M.D. of Mt. Sinai Seaver Autism Center is one of our PMS families who participates in the Developmental Synaptopothies Consortium Natural History Study.

Committed to finding a cure

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 PMS Foundation’s goal is to find effective clinical therapies and eventually a cure. In 2010, the Foundation 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.


Our Role in Research

The foundation’s role in research is to be a partner in moving science from “bench to bedside” by creating partnerships, amplifying the patients’ voice, engaging the patient community in research, disseminating advances in research to families, providing resources in the gap areas of translational research and more.

The foundation seeks to expand its Research Portfolio, continuing to influence and support research, to include more grants, fellowships, and collaborations.  Learn more about our initiatives, grant making, and partnerships:

Our Research Strategy

Grants we have funded

+ Our Partnerships

+ ECHO-PMS Project


Participate in Research

PMSF has created the largest patient data repositories of PMS patient data in the world, the Phelan-McDermid Syndrome International Registry(PMSIR) and the PMS Data Network(PMS_DN). Our Parent Action Committee brings the patients’ voice to research.

PMSF is pleased to partner with research teams to educate and inform the patient community of opportunities to participate in clinical research studies and trials.

+  Phelan-McDermid Syndrome International Registry

+  Parent Action Committee(PAC)

+  Clinical Research Studies

+  Clinical Trials

+ Clinical Trial Webinar February 2018

+ Autism BrainNet Tissue Donation


Learn about Research

PMSF disseminates information about the latest research topics to families.  Click the publications link below to learn about the increase in PMS-related publications.

Families can learn more about research by attending the PMSF International Conference and by viewing the videos and white papers from the McPosium research sessions below. Highlights of the PMS Research Landscape describe outside influences on PMS research.

+ Research Publications

+  PMSF International Conference

+  2016 McPosium Session Videos and White Paper

+ PMSF Research Landscape

Resources for Researchers

PMSF has created the largest patient data repository for Phelan-McDermid Syndrome, making high quality patient data accessible and available to researchers. Please contact the Registry Coordinator to request data or assistance with patient recruitment.  Researchers may contact our Registry PI if you would like to discuss potential research projects.

Additional research resources are listed below including a link to our most frequent request – research grant opportunities. The McPosium White Papers include discussions about priorities in the patient community, and other links provide access to topics of research interest.

+  Research Grant Opportunities

+  Contact PMSF Registry Coordinator

+  Contact Registry Principal Investigator

+  McPosium White Papers

+  Mouse Models

+  Induced Pluripotent Stem Cells (iPSCs)

PMSF | Phelan-McDermid Syndrome Foundation