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…
Updates to Pharmacological Recommendations for the Management of Phelan-McDermid syndrome
We are excited to release updates to our Pharmacologic Recommendations, which were recently finalized by our Phelan-McDermid Syndrome Neuropsychiatric Consultation Group…
A Year-End Gift: 2024 PMSF Family Conference Recordings Now Available
As we wrap up 2024, we’re thrilled to share a special gift with our PMSF community: access to all the recordings…
Exciting News: The Phelan-McDermid Syndrome DataHub is Now Available in Spanish!
At the Phelan-McDermid Syndrome Foundation, we are committed to making resources accessible to all families in our community. That’s why we’re…
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…
Welcoming Dr. Lauren Schmitt, PMSF’s New Chief Science Officer
After a very rigorous process with several excellent candidates, we are very excited to welcome Dr. Lauren Schmitt to the PMSF…