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…
An Important Announcement from Our CEO, Ronni Blumenthal
A Message from Our CEO: Preparing for a New ChapterIt is with both gratitude and a sense of celebration that we…
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…
PMSF 2024 Grant Award Recipients
In January 2023, PMSF launched its research grants program to fund highly motivated scientists studying Phelan-McDermid syndrome. Our goal was to…
PHELAN LUCKY Sets Sights on $1 Million Goal
Over the past decade, more than 59,000 PHELAN LUCKY shirts have found homes in 33 countries across the globe. This has not only…
How are Phelan-McDermid Syndrome and Autism Related?
A large percentage (~75-80%) of people with a Phelan-McDermid syndrome diagnosis also have a diagnosis of autism spectrum disorder. This article…
Neuropsychiatric Support Program
We are very pleased to announce that the Foundation is bringing Dr. Tesi (Teresa) Kohlenberg on part time to assist our Family Support Specialist, Carla D’Imperio, in helping families whose loved ones have neuropsychiatric illness.
SHANK3 in Phelan-McDermid syndrome
What is SHANK3? SHANK3 is a gene that is important for the development and function of the nervous system. Genes are…
PMSF 2023 Grant Award Recipients
PMSF announced a research grants program in January 2023 to provide funding to highly motivated scientists studying Phelan-McDermid syndrome. Our goal…
New drug (JB2) has possible relevance to Phelan-McDermid syndrome
A research team at Northwestern University developed a new drug and tested it in a laboratory model of Phelan-McDermid syndrome.