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). Dr. Kimberly Goodspeed, a
August 16, 2025
Read All About It!
This page is your source for all of the latest news and blog posts about Phelan-McDermid syndrome (PMS).
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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 forward in the area
August 14, 2025
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 therapeutic development and clinical
August 6, 2025
Bridging Science and Hope: Updates on the 2024 PMSF Research Grants
By Meagan Hutchinson In 2024, the Phelan-McDermid Syndrome Foundation awarded three research grants aimed not only at funding discovery but also changing lives. For families
July 30, 2025
Passport to Progress: Diane Joins Conference in Barcelona for a New Era of PMSF and Our Global Community
By Diane Linnehan, COO & Interim CEO, PMSF Diane Linnehan, the Chief Operating Officer and co-interim Chief Executive Officer of the Phelan-McDermid Syndrome Foundation, had
July 17, 2025
“Mini-Brains” and SHANK3—A New Way to Study Phelan-McDermid Syndrome in the Lab
By Meagan Hutchinson Click here to read the full publication Summary: Many parts of brain development are difficult for scientists to study, especially in individuals
July 10, 2025
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 (INSAR) Conference in Seattle,
June 4, 2025
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 the shortcomings of
May 23, 2025
From Awareness to Action: Advocacy for Our Phelan-McDermid Syndrome Community
This is a companion piece to our podcast episode, which we recommend listening to or viewing before reading! But if you do not have the
May 11, 2025
Raising Hope Through Movement 2025
We’re on the move—are you with us? From May 13–25, 2025, the Phelan-McDermid Syndrome Foundation (PMSF) is launching our second Raising Hope Through Movement fundraiser—a
April 30, 2025
Breaking Down NIH Funding for Research
With a past annual budget of nearly $50 billion (yes, that’s with a B!), the National Institute of Health (NIH) is the largest source of
April 3, 2025
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. But what about Class
March 28, 2025