The Phelan-McDermid Syndrome Foundation is sharing an important update with our community: Neuren’s Phase 3 clinical trial of NNZ-2951, known as the “Koala” study, is now active and listed on clinicaltrials.gov.
In July 2026, we are honored to welcome you to The Climb We Make Together, PMSF’s thirteenth biennial Family Conference and the largest gathering of the Phelan-McDermid syndrome community. Over four powerful days on July 15–19, 2026, 700 attendees will come together with leading researchers, clinicians, industry partners, and advocates to learn, collaborate, and drive medical advancements fueling hope for our families.
The Phelan McDermid Syndrome Foundation (PMSF) today announced the appointment of Robbie Baker, a seasoned nonprofit executive and successful fundraiser, as its new Chief Executive Officer.
This publication from Dr. Alex Shcheglovitov’s lab outlines how to create lab-grown brain models, called “mini-brains”, with SHANK3 deletions, like those…
This document outlines the Request for Applications (RFA) for the 2025 PMSF Shannon O’Boyle Memorial Grant, a $100,000 funding opportunity to…
A new FAQ from Jaguar Gene Therapy is now available, including updated details about the JAG201 clinical study. This FAQ addresses…
A Global Genes resource: Since most rare diseases are caused by changes in your genes, genetic testing is often part of the journey. But understanding your options may be challenging. Partnering with a genetic counselor can help you make the best choice for you and your family. What is a Genetic Counselor? A genetic counselor is a healthcare professional with special training in counseling and medical genetics. They can help you understand the diagnostic process and can advocate for you to obtain emotional and financial support and get the best possible care.
Phelan-McDermid syndrome is characterized by global developmental delay, intellectual disability, speech impairment, autism spectrum disorder, and hypotonia; other variable features include epilepsy, brain and renal malformations, and mild dysmorphic features. Here, we conducted genotype-phenotype correlation analyses using the PMS International Registry, a family-driven registry that compiles clinical data in the form of family-reported outcomes and family-sourced genetic test results.
The Inaugural Meeting of the Consortium for Autism, Genetic Neurodevelopmental Disorders, and Digestive Diseases (CANDID) was held in 2022 to gain…
A synopsis of the 2024 PMSF Family Conference in the words of Michael Schön, MD, Institute for Anatomy and Cell Biology, Ulm University. This summary was created first in German for the German Phelan-McDermid community, then translated to english. It summarizes the speaker presentations as well as the family and community sessions.
