SHANK3 in Phelan-McDermid syndrome
SHANK3 is a gene that is important for the development and function of the nervous system. Genes are like instruction manuals in our bodies that
July 20, 2023
Read All About It!
This page is your source for all of the latest news and blog posts about Phelan-McDermid syndrome (PMS).
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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 is to accelerate exciting
July 20, 2023
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.
July 13, 2023
PMSF receives a specific ICD code for Phelan-McDermid syndrome
What is an ICD code? An ICD code is essentially a label, or classification, that goes into a patient’s medical record. It can notate things
April 25, 2023
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 D.C. on March 24th.
March 20, 2023
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.
February 24, 2023
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 to Sloane We are
February 9, 2023
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 Still, PhD, PMSF
February 9, 2023
Family Fundraiser: Turner’s Tribe
by Brooke Turner Jones, Mom to Turner We are excited about the prospects of PMS Awareness Day 2023, as it will be our 5th year
January 26, 2023
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.
January 11, 2023
PMSF Board of Directors 2023 Update
We are very pleased to announce the results of the December 2022 PMSF Board of Directors election results!
January 5, 2023
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?
December 28, 2022
Events Calendar
22 October 2025
Phelan-McDermid Syndrome Awareness Day #PMSAD
03 December 2025
International Day of Persons with Disabilities
02 - 24 January 2026
Phelan Lucky sets sights on $1 Million Goal
22 October 2026
Phelan-McDermid Syndrome Awareness Day #PMSAD
03 December 2026
International Day of Persons with Disabilities
02 - 24 January 2027
Phelan Lucky sets sights on $1 Million Goal
22 October 2027
Phelan-McDermid Syndrome Awareness Day #PMSAD
03 December 2027
International Day of Persons with Disabilities
02 - 24 January 2028
Phelan Lucky sets sights on $1 Million Goal
22 October 2028
Phelan-McDermid Syndrome Awareness Day #PMSAD
03 December 2028
International Day of Persons with Disabilities
02 - 24 January 2029
Phelan Lucky sets sights on $1 Million Goal
No event found!