NIH R01 · 2025
SUMMARY/ABSTRACT Familial dysautonomia (FD) is a severe neurodegenerative disorder caused by a splice site mutation in intron 20 of the elongator acetyltransferase complex subunit 1 (ELP1). Despite its complex neurological phenotype, FD patients suffer from progressive blindness that severely affects their quality of life. Patients with FD show a significant reduction in the thickness of the retinal nerve fiber layer (RNFL) due to progressive and selective loss of retinal ganglion cells (RGCs). Here, we aim to develop a retina-specific treatment for FD by comprehensive evaluation of systemic (SMC PTC680) and local (AAV2-U1a-ELP) therapeutic approaches to rescue visual function in FD. Our…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.