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…
PMSF receives a specific ICD code for Phelan-McDermid syndrome
The new code is Q93.52 and will go into effect October 1, 2023. A years-long dream has been achieved for Phelan-McDermid…
PMSF engages parent advocate with Epilepsy Foundation
What was the event? PMS mom and PMSF rep Anna Williams participated at an annual Epilepsy Foundation Research Roundtable in Washington…
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.
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…
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.
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?
PMS Medical Advisory; Catatonia and NMS
Important Message from our Medical Advisory Committee November 7, 2022 From: Alex Kolevzon, MD, PMS MAC chairperson; William Bennett, Jr, MD,…