2025 Impact Report
In 2025, families found connection, care expanded, and research accelerated, bringing treatments and a cure closer than ever.
Neuren’s Phase 3 NNZ-2591 Trial for Phelan-McDermid Syndrome is Now Active!
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.
2026 PMSF Family Conference Prospectus
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.
PHELAN MCDERMID SYNDROME FOUNDATION NAMES ROBBIE BAKER AS CHIEF EXECUTIVE OFFICER
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.
Publication: Generating and characterizing human telencephalic brain organoids from stem cell-derived single neural rosettes
This publication from Dr. Alex Shcheglovitov’s lab outlines how to create lab-grown brain models, called “mini-brains”, with SHANK3 deletions, like those…
2025 PMSF Neuropsychiatric Illness Award RFA
This document outlines the Request for Applications (RFA) for the 2025 PMSF Shannon O’Boyle Memorial Grant, a $100,000 funding opportunity to…
Jaguar Gene Therapy Community Letter & FAQ *UPDATED 2/23/26*
A new FAQ from Jaguar Gene Therapy is now available, including updated details about the JAG201 clinical study. This FAQ addresses…
How a Genetic Counselor Can Help You
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.
Phenome‑wide profiling identifies genotype‑phenotype associations in Phelan‑McDermid syndrome
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.
Publication: CANDID Conference Proceedings
The Inaugural Meeting of the Consortium for Autism, Genetic Neurodevelopmental Disorders, and Digestive Diseases (CANDID) was held in 2022 to gain…
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