PMSF Research Partnerships

Creating partnerships and telling our story to researchers, clinicians and legislators is so important to the success of the our mission. PMSF has positioned itself as a truly valued patient advocacy group and partner in the research environment. It is through these alliances that the foundation continues to provide a voice for our children.  Click below to learn more about some of the research collaborations and partnerships that PMSF is involved with.  See the Research Blog for ongoing updates on exciting partnerships and other research related news:

Dr. Mustafa Sahin, MD PhD – Boston Children’s Hospital
Dr. Jon Bernstein, Stanford, Palo AltoCA
Elizabeth Berry-Kravis, Rush University Medical Center, ChicagoIL
Audrey Thurm, National Institute of Mental Health, BethesdaMD
Alex Kolevzon, Mount Sinai, New York CityNY
Craig Powell, University of Texas Southwestern, DallasTX

Phelan-Mcdermid Syndrome Natural History Study

The Developmental Synaptopathies Consortium(DSC) is composed of a group of ten medical centers studying three rare genetic syndromes that often cause autism spectrum disorder and intellectual disability.   PMSF has funded some of the sites six sites above and has provided stipends to help families participate in the study.

Dr. Thomas Bourgeron, PhD – Center for Translational Science, Institut Pasteur

The genetic and phenotypic diversity of patients with PMS in Europe

In order to identify the factors that can modulate the severity of the syndrome, we aim at analyzing the genotype-phenotype relationship in all patients with PMS in Europe. Instead of focusing on the size of the 22q13 deletion, we want to analyze the whole genome of all patients with PMS.

Cellular and mouse models of PMS

In order to identify the causative mechanisms and the main neuronal circuits involved in PMS, we are currently studying cellular and mouse models of the syndrome. Our cellular models consist of neurons derived from induced pluripotent stem cells (iPSC) of patients with PMS or ASD carrying a de novoSHANK3 mutation. Our mouse models are based on mice lacking the SHANK3 gene.

Rare Epilepsy Network:

To expedite research into the rare epilepsies, 26 rare epilepsy organizations have joined forces with the Epilepsy Foundation, Research Triangle Institute, and Columbia University to create the first ever Rare Epilepsy Network (REN). With seed funding from the Patient-Centered Outcomes Research Institute (PCORI), the REN is building a patient registry to collect information about people living with rare epilepsies to better understand these conditions, improve treatments, and improve the lives and quality of care of people living with them.

Dr. Eva Loth – EU-AIMS

King’s College, London, UK,  EU-AIMS involves a novel collaboration between organizations representing affected individuals and their famillies, academia and Industry who for the first time in the world have come together to develop the infrastructure underpinning new treatments for autism. Patient organizations, academic and industry join forces to develop and assess novel treatment approaches for autism.  EU-AIMS has a special project focusing specifically on SHANK3.

Autism BrainNet

Phelan-McDermid Syndrome Foundation is a partner of Autism BrainNet.  This program will enable the highest quality and most rigorous research into the causes of autism spectrum disorder and other related neurodevelopmental conditions. The postmortem brain resource will generate data that will contribute to the development of preventions and treatments to improve the quality of life of individuals with autism spectrum disorders.

PMSF | Phelan-McDermid Syndrome Foundation