Jansen de Vries Syndrome Foundation

Jansen de Vries Syndrome, or JdVS, is an ultra-rare genetic neurodevelopmental disorder associated with pathogenic variants in the PPM1D gene. JdVS is caused by truncating mutations in exons 5 and 6 of the PPM1D gene. The resulting protein products escape nonsense-mediated mRNA decay (NMD), producing a hyper-stable, truncated WIP1 protein that exerts a gain-of-function effect.

First described in the medical literature in 2017, JdVS remains relatively new to the medical and scientific communities. Families receiving the diagnosis today are often left with fundamental questions about what the condition means for their child, what to expect over time, and what treatments may one day be possible.

People with JdVS can experience developmental and cognitive impairments, behavioral and emotional dysregulation, hypotonia, feeding and swallowing challenges, chronic constipation, cyclic vomiting, and other developmental and health needs.

There is currently no JdVS-specific treatment. For an ultra-rare condition like JdVS, progress depends on more than scientific interest alone. Families must first be found and connected so researchers can access patients, clinical information, biological samples, and insight into how the condition affects daily life. Disease models and early studies must often be developed before larger institutions or industry are prepared to invest.

The Jansen de Vries Syndrome Foundation was created to help make that progress possible.