Dr. Anil K. Chekuri from Massachusetts Eye and Ear, Schepens Eye Research Institute Awarded $90,000 Knights Templar Eye Foundation Grant for Familial Dysautonomia Associated Optic Neuropathy Research

Dr. Anil K. Chekuri from the Massachusetts Eye and Ear, Schepens Eye Research Institute, Boston, Massachusetts was awarded a $90,000 grant for Mechanism and therapeutic opportunity for Familial Dysautonomia associated optic neuropathy.

Familial dysautonomia (FD) is a severe neurodegenerative disease caused by a mutation in the ELP1 gene leading to a reduction of ELP1 protein in the central and peripheral nervous system. Although FD patients suffer from multiple severe neurological symptoms, progressive blindness drastically reduces the quality of life and is a major concern of patients and their families.

Over the past years, we have worked to generate and characterize new FD mouse model that both recapitulates the optic neuropathy phenotype and the tissue-specific splice defect. In this proposal, Dr. Chekuri outlines a novel gene editing strategy to target ELP1 splicing in the retina as a potential therapy for retinal degeneration in FD. Over the past years he has tested novel pharmacologic and genetic approaches to modulate ELP1 splicing and showed the rescue of neuronal defects in a mouse model of FD. Since FD is a systemic disease it is likely that combination therapies will ultimately be necessary to ameliorate the disease phenotype.

In this proposal Dr. Chekuri will test a novel gene editing strategy specifically in the retina. Given the speed with which AAV directed gene therapy for retinal disease is moving into the clinic, he is confident that his novel gene editing strategy will open new avenues in the treatment of FD. The studies out lined in the proposal will not only address a critical unmet medical need in FD but will also allow him to uncover the precise mechanism by which retinal ganglion cells are selectively lost in FD. Successful completion of the stated aims will certainly have implications for treating FD.