NEW Quick Resource Cards
PMSF Releases the first in a series of Quick Resource Cards by Diane Linnehan, Director of Operations and Jenn Carter, Mom…
Information about the Phelan-McDermid Syndrome Foundation (PMSF)
NEW PODCAST: Convos with Dr. Kate
Our podcast is now available on major platforms, with a new episode posted on the 22nd of each month!by Dr. Kate…
PMSF to co-fund Autism Science Foundation research grant
Dr. Sheng-Nan Qiao at Yale University applied to study the link between brain inflammation and regression (loss of skills) in PMS. The funded project focuses on approaches for reducing neuro-inflammation when modeling Phelan-McDermid syndrome in the laboratory.
PMSF Board of Directors 2023 Update
We are very pleased to announce the results of the December 2022 PMSF Board of Directors election results!
What are antisense oligonucleotides (ASOs)?
We've been hearing about antisense oligonucleotides (ASOs) in the news as a potential therapeutic for PMS. But what are they and how do they work?
Family Support Update
There are some big things happening in the world of Family Support! Our Family Support Specialist, Carla D'Imperio, is working on improving our…
2024 PMSF International Family Conference Announcement
The PMSF International Family Conference was established in the year 2000 and has since been planned biennially on even years. As you know, COVID…
Applying for an ICD Code for Phelan-McDermid syndrome
https://youtu.be/fRDlkex2Kjg PMSF has applied to the CDC for an ICD Code for Phelan-McDermid syndrome. Our Scientific Director shares why this is…
New clinical trial results of Insulin-like Growth Factor-1 (IGF-1) in Phelan-McDermid syndrome
Results from a study testing the safety and feasibility of using growth hormone (GH) as a treatment in children with Phelan-McDermid syndrome has just been published.
Enrollment is currently open for Phase II of the Phelan-McDermid syndrome (PMS) Natural History Study
The Natural History Study is funded by NIH and the goal is to help medical professionals study PMS and how it progresses over time. This information is essential for developing clinical guidelines, identifying research priorities, and assessing the effectiveness of the clinical intervention.