Neuroinflammation Research in Mice
By: Meagan Hutchinson (PMSF Scientific Program Coordinator) and Lauren Schmitt, PhD (PMSF Chief Science Officer) Date: May 20, 2026 What Did…
The First Multidisciplinary Phelan-McDermid Syndrome Clinic Opens at Cincinnati Children’s
By Lauren Schmitt, PhD3/26/2026Cincinnati Children’s Hospital Medical Center (Cincinnati, Ohio) is now home to the first multidisciplinary clinic specializing in Phelan-McDermid…
Gene Therapy 101 Webinar Recap
In June, the Phelan-McDermid Syndrome Foundation hosted a webinar in collaboration with the American Society of Gene & Cell Therapy (ASGCT).…
2025 Shannon O’Boyle Memorial Grant Awardee
We have exciting news to share with our Phelan-McDermid syndrome community! This year’s PMSF research grant will help drive groundbreaking science…
PYC Therapeutics Update – Progress on RNA-Based Therapy for Phelan-McDermid Syndrome
The Phelan-McDermid Syndrome Foundation is committed to keeping our community informed about the latest scientific and medical research, including progress in…
Conference Updates from Dr. Lauren
Earlier this spring, Dr. Lauren traveled to the Gatlinburg Conference in San Diego, CA, and the International Society for Autism Research…
Diagnosing the Undiagnosed: PMSF Partnering with BioLogic Pharma Solutions to Help Improve SHANK3 Testing
https://www.healthshots.com/brand-stories/biologic-calls-for-better-genetic-testing-at-acmg-2025/BioLogic Pharma Solutions, in partnership with Neuren Pharmaceuticals, has been on the conference tour this spring to share their research revealing…
Class I vs. Class II Deletions: What’s the Difference?
In Phelan-McDermid syndrome, you are likely familiar with the terminology and differences between SHANK3 deletions, SHANK3 variations, and even ring chromosomes.…
Epilepsy and Seizure Update from the Natural History Study
Seizures are a big concern for families with children with Phelan-McDermid syndrome, but it's not always clear when or why they…
Jaguar Gene Therapy Shares New Community Letter and FAQ with Latest Jag201 Clinical Study Details on ClinicalTrials.gov
Important Links:Updated Community Letter & FAQ from Jaguar Gene Therapy (11/5/24)Updated information is highlighted in blueJAG201 Clinical Study Record on ClinicalTrials.govJaguar's…