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Looking for Phelan-McDermid Syndrome Foundation apparel? The official PMSF online store makes it easy to show your support, spread awareness, and stay connected to the Phelan-McDermid syndrome community
Looking for Phelan-McDermid Syndrome Foundation apparel? The official PMSF online store makes it easy to show your support, spread awareness, and stay connected to the Phelan-McDermid syndrome community
Phelan-McDermid syndrome is a rare genetic condition usually caused by a deletion or structural change at the end of chromosome 22, in a region called 22q13. Symptoms and severity can vary widely among people with Phelan-McDermid syndrome. For individuals with a chromosome 22 deletion, the size of the deletion may help explain some of these clinical differences. In general, larger 22q13 deletions are associated with more significant developmental delays and medical concerns. A recent study in 63 people with Phelan-McDermid syndrome further explored these genotype-phenotype relationships, helping researchers better understand how chromosome 22 deletion size may influence symptoms such as language development, motor function and development, and social behaviors as well as medical issues. This study also identified several candidate genes that could also be contributing to the symptoms seen in Phelan-McDermid syndrome.
By: Meagan Hutchinson (PMSF Scientific Program Coordinator) and Lauren Schmitt, PhD (PMSF Chief Science Officer) Date: May 20, 2026 What Did…
Driving Research Breakthroughs Funding research, treatments, and cures for Phelan-McDermid SyndromeThe Phelan-McDermid Syndrome Foundation is proud to launch Driving Research Breakthroughs,…
We have exciting news to share with our Phelan-McDermid syndrome community! This year’s PMSF research grant will help drive groundbreaking science…
The Phelan-McDermid Syndrome Foundation is committed to keeping our community informed about the latest scientific and medical research, including progress in…
By Diane Linnehan, COO & Interim CEO, PMSFDiane Linnehan, the Chief Operating Officer and co-interim Chief Executive Officer of the Phelan-McDermid…
By Meagan Hutchinson Click here to read the full publication Summary: Many parts of brain development are difficult for scientists to…
Earlier this spring, Dr. Lauren traveled to the Gatlinburg Conference in San Diego, CA, and the International Society for Autism Research…
With a past annual budget of nearly $50 billion (yes, that’s with a B!), the National Institute of Health (NIH) is…