Jansen de Vries Syndrome Foundation/PPM1D

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Jansen de Vries Syndrome Foundation/PPM1D

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This page was created to help spread awareness and understanding of individuals diagnosed with Jansen de Vries Syndrome, a variant in the PPM1D gene.

Within the past five years, geneticists have discovered pathogenic variants in the PPM1D gene, now known as Jansen de Vries Syndrome. It can be describes as a nonsense alteration that results in a shortened protein. This mutation causes a wide range of overlapping clinical features including neurodevelopment issues, anxiety, unique facial features, short and wide hands/feet, growth hormone deficiency and a variety of other health issues. It is important to note that not every individual exhibits all of these symptoms. Therapies and early interventions have been proven to be very helpful in ensuring those diagnosed can be the best version of themselves. Family members, therapists, and teachers play an extremely important role in recognizing the needs of these students and learning how to help them succeed. Family members of recently diagnosed have also found their JdVS family members to be extremely social, loving, outgoing, and flirtatious. In other words, joyous and beautiful people to be around! We hope that you learn from the information shared on this page and ask that you be respectful and appropriate, if not comments and posts will not be allowed.

11/05/2026

Check holiday cards off of your to-do list AND support the JdVS community at the same time. ✅

11/04/2026

What an incredible few days at the COMBINEDBrain Annual Summit! 🧠

There’s nothing quite like being in a room full of such dynamic and innovative individuals paving the way for rare disease progress. We covered so much ground together: drug repurposing, organizing and protecting patient registries, the state of Combined Brain and their growing biorepository, strategic planning, and so much more. We’re heading home inspired and ready to put it all to work for the Jansen de Vries Syndrome community.

A highlight of the trip was the fundraiser for Our Place Nashville. Very impressed with everyone who came together to make it such a success!

And a huge thank you to the sponsors who made this summit possible: Gene Dx, Biogen , Unravel Biosciences, NeuCyte, and Mahzi Therapeutics

10/22/2026

CVS episodes follow a predictable pattern. Recognizing these four phases can help you or your healthcare provider identify what's happening, seek earlier treatment, and manage symptoms more effectively. Each phase has distinct characteristics and needs.

Learn more about the relationship between cyclic vomiting syndrome and through our comorbidity article, in partnership with the Cyclic Vomiting Syndrome Association.

🔗 https://www.migrainedisorders.org/cyclic-vomiting-syndrome/

10/12/2026

The South Carolina Genetic Counseling Society hosted its annual conference at Greenwood Genetics on Friday. The Jansen de Vries Syndrome Foundation was honored to join the Neurogenetics Advocacy Panel alongside advocates from Cure Sanfilippo Foundation, Friedreich’s Ataxia Research Alliance , and Huntington’s Disease Foundation. Genetic counselors are true champions in the rare disease community, and we are deeply grateful for their commitment to helping families navigate complex diagnoses.. The JdVS Foundation looks forward to building on these newly discovered connections.

10/10/2026

Living with a rare disease—or supporting a loved one—comes significant emotional weight.

Balancing medical care, advocacy, daily life, and your own emotional well-being is heavy work. Today, and every day, our foundation wants every rare family to know: your mental health matters, your feelings are valid, and you do not have to carry this alone.

We see you and honor your strength!

09/24/2026

Don't forget! The data is powerful and needed to advance the research.

Natural History Study:

https://humandiseasegenes.nl/ppm1d/parents/upload-clinical-information

Simons Searchlight

https://research.simonssearchlight.org/account/create

09/17/2026

The ball is rolling and things are happening thanks to an incredibly efficient 2027 Summit Committee. After significant research, this hotel came out on top for what is offered AND proximity to Children’s Mercy.

***A link to book rooms will be sent out soon!

09/15/2026

Three JdVS Foundation board members attended the conference and networking dinner on behalf of the JdVS Community. A big thanks to Simons Searchlight for the work you are doing to advance Rare Disease Research!

09/10/2026

💡 Collaborating for a brighter future.

Our team at the Jansen de Vries Syndrome Foundation spent an incredible 2 days in Boston at the Global Genes RARE Drug Development Symposium. We joined forces with rare disease experts, advocates, and industry leaders to learn, share, and accelerate our research strategies.
A few major highlights from our trip:

• 🍽️ Connecting over dinner with the wonderful team at Simons Searchlight

• 🧬 Meeting with Woan Yu from the RTW Foundation to map out vital next steps to advance science and research for our community.

We will return after one more session tomorrow with fresh insights, powerful partnerships, and a clear vision for the path ahead. Swipe through to see a few moments from our time in Boston!
📸👇
PatientAdvocacy RareDiseaseResearch

Address

PO Box 14
Natick, MA
01760

Website

http://www.jansen-devries.org/

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