For Researchers
The PMSF supports every stage of research in Phelan-McDermid syndrome, from animal models to clinical trials. We offer funds, access to key opinion leaders and model systems, data from patients, and recruitment opportunities. If interested in starting a relationship with us, contact our Scientific Director.
Funding Opportunities
First launched in 2023, PMSF offers a robust annual Research Grants Program, with funding across three award categories. Grant applications are reviewed by PMSF leadership, scientific advisors, and Phelan-McDermid syndrome family members.
Model Systems
The PMSF is in close contact with leading scientists through our Scientific Advisory Committee and through relationships formed with researchers worldwide to stay informed on strides made in basic and clinical research.
The Phelan-McDermid Syndrome DataHub
The PMSF has created the largest patient contact registry and data repository for Phelan-McDermid syndrome. Our goal is to make high-quality patient data accessible and available to researchers and connect potential participants to research studies and clinical trials. Researchers interested in conducting studies with Phelan-McDermid syndrome participants can complete an application that will be reviewed by the PMSF prior to recruitment. Typical turnaround times are two weeks. The goal is to engage with researchers at the early stages of study design to provide feedback and facilitate a smooth recruitment process.
Recruitment Requests
The DataHub platform itself houses genetic reports, general health information, medication data, and demographics from people with Phelan-McDermid syndrome. The DataHub has undergone an overhaul to standardize all surveys. Data exports will be available sometime in 2024.
The DataHub platform itself houses genetic reports, general health information, medication data, and demographics from people with Phelan-McDermid syndrome. The DataHub has undergone an overhaul to standardize all surveys. Data exports will be available sometime in 2024.
