Frances B. Lefcort

This study shows that gene supplementation with ELP1 in a mouse model of familial dysautonomia rescues retinal structure and function, suggesting it as a potential therapy for FD-associated optic neuropathy.

This study shows that loss of Elp1 in trigeminal ganglion neurons leads to impaired axon outgrowth, reduced target innervation, and decreased TrkA neuron survival, explaining facial pain and temperature sensation loss in Familial Dysautonomia.

This study shows that Elp1 is essential for the development of visceral sensory circuits involved in baroreception and chemosensation, and its loss leads to impaired autonomic homeostasis in FD mouse models.