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…
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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…
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…
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…
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…
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.…
PYC Therapeutics Webinar Takeaways
We are so grateful to PYC Therapeutics for their informative webinar on PYC-002, an RNA-based gene therapy, held on March 13,…
2023 PMSF Grant Awardees – Round-Up
Over the past month, I’ve had the opportunity to interview each of our 2023 PMSF Grant Awardees for our podcast, The…
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…
A Pilot Study Investigates a New Potential Treatment for Seizures in Phelan-McDermid Syndrome
This was written by PMSF to provide a summary of information in an accessible way for parents. PMSF does not speak…