Connect the field
Bring researchers, experts and families together across borders for better care and discovery.
Research & collaboration
Advancing research, together
We drive collaboration between researchers, clinicians and families to better understand Phelan-McDermid Syndrome and improve outcomes — because progress moves faster when the whole community pulls in the same direction.
Our approach
How we support research
Support registries
Encourage collaboration with existing databases and patient data registries worldwide.
Grow expert centres
Facilitate the build-up of PMS expert centres so knowledge concentrates and spreads.
Share knowledge
Hold periodic meetings for organizations, professionals and families to exchange new developments.
Data & registries
Every family counts — literally
Because PMS is rare and underdiagnosed, connected data is one of the most powerful tools we have. By supporting patient registries and collaboration between existing databases, we help researchers see the whole picture — and families become part of the answer.
- Support and connect existing PMS registries and databases
- Reduce underdiagnosis through global awareness
- Give families a meaningful way to contribute to progress
Connected data, worldwide — the engine of discovery
Where research matters
Areas of focus
Understanding SHANK3
How changes at 22q13.3 shape development — the biology behind PMS.
Health & natural history
Longitudinal understanding of how PMS presents and changes over a lifetime.
Toward treatments
Supporting the groundwork that makes future therapeutic research possible.
Quality of life
Communication, wellbeing and everyday outcomes that matter most to families.
Make a difference
Your support helps a family feel less alone.
Every contribution funds research, connects families to the right association, and raises the global voice of the Phelan-McDermid community.