PMSF Research Roundup: February 2022
Do you wonder how a research publication affects your loved one or the field of Phelan-McDermid research? The Research Roundup is…
Posts about advances in Phelan-McDermid syndrome research
PMSF Scientific Advisory Committee Revisits Definition of Phelan-McDermid Syndrome
The Phelan-McDermid Syndrome Foundation Scientific Advisory Committee has proposed a new classification system for Phelan-McDermid syndrome in an important new publication.
PMSF Research Roundup: January 2022
Do you wonder how a research publication affects your loved one or the field of Phelan-McDermid research?The Research Roundup is a…
Jaguar Gene Therapy Will Target SHANK3 for Gene Therapy
JAG201 is designed to address mutation or deletion of the SHANK3 gene, a leading autism candidate gene, by delivering SHANK3 gene replacement therapy.
PMSF Research Roundup: December 2021
Do you wonder how a research publication affects your loved one or the field of Phelan-McDermid research?The Research Roundup is a…
Research Roundup – September 2021
Do you wonder how a research publication affects your loved one or the field of Phelan-McDermid research?The Research Roundup is a…
Research Roundup, August 2021
A monthly digest of publications regarding Phelan-McDermid syndrome. by Kate Still, Ph.D., PMSF Scientific Director A push towards Whole Genome Sequencing…
PMS Natural History Study is OPEN
By Katherine Still, Ph.DScientific Director Open enrollment for the Phelan-McDermid syndrome (PMS) Natural History Study The Natural History study is a…
International Survey for those living with Phelan-McDermid syndrome
by Diane Linnehan, Director of Operations One of our PMSF scientific advisors, Conny van Ravenswaaij, MD, Ph.D, a clinical geneticist from…
PMS Gastrointestinal Research – from Home
By Kathy Fiscus Operations Coordinator Research at HOME? What is a Smurfcake? The University of Miami and Atrium Health are conducting…