Publication: Functional genomics analysis of PMS
by Catherine Ziats, MDResearcher, AuthorBelow is a summary of our research article entitled ‘Functional genomics analysis of Phelan-McDermid syndrome 22q13 region…
Posts about advances in Phelan-McDermid syndrome research
PMSF collaborates with Heterogenous registry
By Ronni Blumenthal, Executive Director We recently had an opportunity to spend some time chatting with Patrick Short, CEO of Heterogeneous,…
Phelan-McDermid Syndrome families inspire zebrafish research study
By Geraldine BlissPMSF Board Member, Parent If you attended the 2016 or 2018 McPosium, you might remember meeting two young investigators, David James…
Important Message From Our Medical Advisory Committee
The Phelan-McDermid Syndrome (PMS) Medical Advisory Committee would like to inform the patient community and the providers who care for them…
Comorbidities of Epilepsy in Persons with PMS: Results from the Rare Epilepsy Network
By Geraldine BlissPMSF Board Member and mom to Charles In 2014 PMS families whose children have epilepsy were invited to participate…
Piloting Treatment with IGF-1 in Phelan-McDermid Syndrome
By Geraldine Bliss, Board Member and Research Liaison Since 2012, the Seaver Autism Center at the Icahn School of Medicine at Mt. Sinai…
Research Experience Survey Results
By Diane Linnehan, Program Director The results are in! One of the primary strategic objectives of the Foundation Family Support is to characterize the…
First SHANK3-deficient primate model
By Geraldine Bliss, Director, Phelan-McDermid Syndrome Foundation July 28, 2017 Over the last several years there have been many important…
Stanford researcher finds high prevalence of sleep issues in those with PMS
Ninety percent of individuals with Phelan-McDermid Syndrome have sleep disturbances, according to the results of a Stanford University study. However, only 22…
New seizure registry now available for Phelan-McDermid Syndrome families
Twenty-one rare epilepsy organizations have joined forces with the Epilepsy Foundation, Research Triangle Institute, Columbia University and New York University to…