Research & Studies
Natural History Study
Help strengthen the shared understanding of JdVS by contributing clinical information that can support future research.
Join the studyHope is on the horizon for JdVS families.
Building community. Spreading awareness. Supporting research. Uplifting families.
Our Mission
Building community, spreading awareness, and supporting research.
The Jansen de Vries Syndrome Foundation is committed to improving the lives of those affected by JdVS through building community, spreading awareness, and supporting research.
Your support makes our work possible. The Jansen de Vries Syndrome Foundation is a registered 501(c)(3) non-profit organization, and all financial donations are tax-deductible.
Support
By uniting families and sharing stories, we help newly diagnosed families connect with others and navigate unfamiliar territory together.
Resources
We connect families and providers with tools, guidance, and examples of what has helped individuals with JdVS thrive.
Research
Fundraising and partnerships help researchers better understand PPM1D and explore treatments that can improve quality of life.
Advocacy
We work to put JdVS on the map by increasing awareness, strengthening community, and helping more families get connected.
Start Here
Understanding Jansen de Vries Syndrome
Learn the basics of JdVS, the PPM1D gene, and common questions families and providers ask early on.
Explore Resources
Find materials for patients, caregivers, and medical professionals in one evolving library.
Join the Community
Connect with other families, read stories, and stay close to the growing JdVS network.
Featured Updates
Highlighted next steps for families, supporters, and researchers.
Events
JdVS Family and Medical Professionals Summit
The next summit is planned for July 30 to August 1, 2027 in Kansas City, Missouri.
Ask about upcoming eventsResources
Start with practical guidance
Explore family resources, clinical considerations, and curated research links in one evolving library.
Browse resourcesStories That Inspire
Family stories are a powerful reminder that support, progress, and joy can grow alongside diagnosis.
Meet Daniel
About Daniel Daniel is 15 years old. He lives with his dad, mom, and older sister. He loves seeing his grandmother Lena daily and has many family members in South Africa and Australia. Early Years Daniel was born at term after an uncomplicated pregnancy.
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Meet Wells
Wells was born at thirty seven weeks to his mother, Rachel. The pregnancy was mostly normal, except for excess amniotic fluid. Healthy at birth, he was discharged after two days in the hospital.
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Meet Uzziah
Uzziah and his family joined the JdVS community in 2019 after diagnosis by Dr. Cynthia Curry. Like many individuals with JdVS, he experienced delays in milestones, feeding issues, seizures, and short stature.
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Meet Ryan
Ryan's family has helped raise awareness by sharing his story, his path to diagnosis, and the support shown by his school community.
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Meet Noah
Noah's family spent months searching for answers before genetic testing identified JdVS. Their story reflects the uncertainty many families face before a diagnosis finally brings clarity.
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