This page is your source for all of the latest news and blog posts about Phelan-McDermid syndrome (PMS).
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The Phelan-McDermid Syndrome Foundation Scientific Advisory Committee has proposed a new classification system for Phelan-McDermid syndrome in an important new publication.
Do you wonder how a research publication affects your loved one or the field of Phelan-McDermid research? The Research Roundup is a summary of significant
JAG201 is designed to address mutation or deletion of the SHANK3 gene, a leading autism candidate gene, by delivering SHANK3 gene replacement therapy.
Do you wonder how a research publication affects your loved one or the field of Phelan-McDermid research? The Research Roundup is a summary of significant
https://youtu.be/NmZOnH7tpBk Punya is diagnosed with Phelan-Mcdermid syndrome and does not currently speak. Ananya, her sister, is dedicated to learning how Punya communicates so the two can
Do you wonder how a research publication affects your loved one or the field of Phelan-McDermid research? The Research Roundup is a summary of significant
by Diane Linnehan, PMSF Director of Operations The new PMSF website launched on August 11th! With the help of our amazing staff and volunteers, we
A monthly digest of publications regarding Phelan-McDermid syndrome. by Kate Still, Ph.D., PMSF Scientific Director A push towards Whole Genome Sequencing and Whole Exome Sequencing
We are so thankful to Maria Punzo, who recently completed the Queens Half Marathon in honor of her nephew, John Welsh. Maria took the race
By Katherine Still, Ph.DScientific Director Open enrollment for the Phelan-McDermid syndrome (PMS) Natural History Study The Natural History study is a long-term research initiative designed
by Diane Linnehan, Director of Operations One of our PMSF scientific advisors, Conny van Ravenswaaij, MD, Ph.D, a clinical geneticist from the Netherlands, is coordinating
By Kathy Fiscus Operations Coordinator Research at HOME? What is a Smurfcake? The University of Miami and Atrium Health are conducting a research study on
