Familial Dysautonomia: the leader in FD treatment and research
The FD Genetic Therapy Fund
For the first time, the science to treat the root cause of Familial Dysautonomia is within reach. Three genetic therapy programs are underway right now. Help us see them through.
Where your gift goes
FD is caused by a mutation in the ELP1 gene that starves sensory and autonomic neurons of a protein they need to survive. These three programs each target that root cause.
1. Gene replacement therapy
An AAV vector delivers a healthy copy of the ELP1 gene. In FD mouse models it raised ELP1 protein and protected neurons. [Insert current trial stage / institution]
2. Retinal therapy for vision loss
Targeting the progressive optic neuropathy that steals sight from FD patients in their teens and twenties. [Insert current trial stage / institution]
3. Splice-correcting small molecule
A drug that corrects the ELP1 splicing defect to restore full-length, functional protein throughout the body. [Insert current trial stage / institution]