Accelerating research for DHX30
The Rare Remy Foundation is dedicated to improving the lives of individuals affected by DHX30 mutations by accelerating research efforts to understand and treat DHX30-associated neurodevelopmental disorders.
What is DHX30 Syndrome?
DHX30 Syndrome is an ultra-rare neurodevelopmental disorder caused by mutations in the DHX30 gene. Affecting approximately 170 known individuals worldwide [1], this condition can lead to global developmental delay, intellectual and motor disabilities, absent speech, feeding difficulties, and seizures.
Currently, there are no FDA-approved treatments available, leaving families facing significant challenges and unmet medical needs.
Remy’s Story
Remy was named after the French town of Saint-Rémy, where Vincent Van Gogh created some of his most iconic works — art that forever changed how we see beauty.
Remy’s name carries that same spirit: a reminder that difference is not something to hide, but something that brings color and depth to the world. He reminds us that the most moving forms of beauty often come from those who see — and live — differently.
Rare Remy Foundation Research Initiatives
ASO Therapy
Developing anti-sense oligonucleotide (ASO) therapy with n-Lorem Foundation for a personalized RNA treatment. Read about Remy's path on n-Lorem's patient stories.
Biobank
Established first-ever DHX30 patient community-owned biorepository with COMBINEDBrain (Van Andel Institute) to collect and store samples that are critical to powering research investigations
Mouse Model
Creating a DHX30-affected mouse model, an essential research tool, in collaboration with The Jackson Laboratory Rare Disease Translational Center
Drug Repurposing
Identifying candidate repurposed drugs with Unravel Biosciences RareSHIFT
Grants Program
Funding research to understand, treat, and transform outcomes for patients with DHX30 mutations. Learn more about our Grants Program.
Research Investigations
Piloting investigations at leading U.S. research institutions to advance understanding of DHX30 biology and therapeutic targets. Stay in touch as we are able to share more from our scientists.
Help Drive DHX30 Breakthroughs
Every donation directly funds research that brings us closer to understanding and treating DHX30 Syndrome. Families can also support our work by directly contributing to research efforts. Together, we can turn individual efforts into meaningful progress for this ultra-rare condition.
Citation: 1. Estimates shared by our partners at DHX30 United in early 2026