Jansen de Vries Syndrome Foundation/PPM1D

Jansen de Vries Syndrome Foundation/PPM1D 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 deficie

ncy 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.

Recently the JdVS Syndrome Foundation announced a new opportunity for research through Simon's Searchlight to support th...
08/31/2026

Recently the JdVS Syndrome Foundation announced a new opportunity for research through Simon's Searchlight to support their mission in connecting the dots between genetic disorders and Autism. Breakthrough science matters, as mapping molecular blueprints in a comprehensive new autism protein mapping study accelerates targeted therapies and offers hope to rare disease families. Understanding these exact cellular pathways opens the door for potential therapeutics.

Scientists are getting a step closer to understanding exactly how autism develops in the brain – and what might work to treat it.

Jansen de Vries Syndrome Foundation is partnering with Simons Searchlight to help advance research on PPM1D-related synd...
08/23/2026

Jansen de Vries Syndrome Foundation is partnering with Simons Searchlight to help advance research on PPM1D-related syndrome (Jansen-de Vries syndrome). Simons Searchlight is an international online research program studying more than 185 rare genetic neurodevelopmental conditions. By joining the program and sharing your experiences through online surveys and optional blood sample collection, families contribute to research that helps scientists better understand these conditions and supports the development of improved care and future treatments.

With the help of Children's Mercy and some creative community members, the JdVS Foundation is moving forward with an in-...
08/14/2026

With the help of Children's Mercy and some creative community members, the JdVS Foundation is moving forward with an in-person JdVS Family and Medical Professionals Summit in 2027! The Summit Committee is working diligently to ensure we offer an in-person event AND continue to prioritize research funding. More details to come.

08/07/2026

The team is proud to launch this research project that was once just a simple idea. Anyone interested in learning more is welcome to reach out with questions. Thank you to all of the fundraising efforts allowing research like this to happen.

A huge shout out to the Coronado Family and Meander Brewing Co for putting together an incredible fundraising even for t...
07/31/2026

A huge shout out to the Coronado Family and Meander Brewing Co for putting together an incredible fundraising even for the Fund the Future Research Campaign. THANK YOU for your commitment to the mission. 🧬

Exciting Announcement!
07/23/2026

Exciting Announcement!

Every family that joins the JdVS Foundation Community is much more than another diagnosis. Thank you for supporting the...
07/14/2026

Every family that joins the JdVS Foundation Community is much more than another diagnosis. Thank you for supporting the mission to spread awareness, build community, and support research.

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PO Box 14
Natick, MA
01760

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