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…
Grief Support Group Registration
Registration is open for our first Phelan-McDermid Caregiver Support Group. We are thrilled to invite you to register for our new Caregiver Support Groups. These groups will be a time for Phelan-McDermid syndrome caregivers to share their experience in a welcoming and supportive group setting.
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.
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?
Neuropsychiatric Conditions in PMS
Quick links to important information for families and clinicians about neuropsychiatric regression in PMS.
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,…
Join us for a Patient-Focused Drug Development meeting with the FDA!
Save the date! November 8, 2022, 10 am - 3 pm ET (Please note this is election day in the U.S. …