Connect the field
Bring national associations, researchers and clinicians together across borders — the relationships that make discovery possible.
Promoting & facilitating research
Making PMS research possible
PMS GO doesn't run studies of its own. Our role as a global organization is to promote and facilitate research — acting as the international hub that connects national associations, researchers and clinicians across borders, and builds the collaborations that major funding programmes require.
Our role
How we enable research
Support registries
Encourage collaboration between existing PMS databases and patient registries worldwide, so the data speaks with one voice.
Grow expert centres
Facilitate the build-up of PMS expert centres so knowledge concentrates — and reaches the families who need it.
Share knowledge
Hold periodic meetings for associations, professionals and families to exchange new developments and findings.
Why a global organization
Funding no single country could secure alone
Many European and international research programmes only fund projects that bring together partners from several countries. On their own, national associations often lack the capacity — or the eligibility — to reach that funding. As the international coordinating body, PMS GO connects the partners, strengthens the applications, and opens doors that would otherwise stay closed.
- Bring together researchers, clinicians and associations from different countries
- Build the international consortia that major funding programmes require
- Strengthen grant applications and improve the chances of securing funding
- Create research opportunities that benefit every member organization
One international hub — many national partners
Connected data, worldwide — the engine of discovery
Data & registries
Every family counts — literally
Because PMS is rare and underdiagnosed, connected data is one of the most powerful tools the field has. By helping existing registries and databases collaborate, we make it easier for researchers to see the whole picture — and for families to 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
Where research matters
What research is working toward
These are the questions the PMS research community is working to answer. We don't run these studies ourselves — we help the community rally the partners and the funding that bring the answers within reach.
Understanding the genetics
How changes at 22q13.3 and SHANK3 shape development — the biology behind PMS.
Health & natural history
How PMS presents and changes across a lifetime — the knowledge that improves care.
Toward treatments
The groundwork that makes future therapeutic research possible.
Quality of life
Communication, wellbeing and the 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.