A pilot study of Growth Hormone in children with Phelan-McDermid syndrome
Results from a study testing the safety and feasibility of using growth hormone (GH) as a treatment in children with Phelan-McDermid syndrome has just been published.
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…
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…
PMS Presence at Curating the Clinical Genome Conference 2019
By Emily VandenBoomPMSF Registry Coordinator/Genetic CounselorI had the pleasure of representing the Phelan-McDermid Syndrome Foundation at the annual Curating the Clinical…