Dr. Sumanth Manohar from University of Kentucky awarded $90,000 Knights Templar Eye Foundation Grant for CHARGE Syndrome Research

Dr. Sumanth Manohar from the University of Kentucky, Lexington, Kentucky was awarded a $90,000 grant for the research entitled: Understanding the function of CHD7 during retinal development and the ocular complications of CHARGE syndrome.

CHARGE syndrome is a multi-syndromic disorder that is a significant cause of pediatric vision impairment. Mutations in the chromatin remodeling factor CHD7 are the major cause of this disease. Although pathogenic variants of CHD7 are strongly associated with ocular complications, the pathogenetic mechanisms underlying vision loss are not thoroughly understood. Dr. Manohar’s lab has been investigating the function of CHD7 during retinal development using chd7 mutant zebrafish, which demonstrate similar phenotypes to those observed in individuals with CHARGE syndrome. He has observed that loss of CHD7 causes a reduction in the number of retinal cone photoreceptors as well as abnormal photoreceptor outer segments. Other studies have also shown a reduction in the number of ganglion cells in chd7 morphant zebrafish embryos. These results suggest that CHD7 plays a critical role in retinal cell type differentiation, particularly of the ganglion and photoreceptor cells.

Dr. Manohar’s goal is to determine how CHD7 functions to regulate cell type differentiation in the retina, by utilizing single cell transcriptomic and chromatin binding assays in the zebrafish model. Results of these experiments will provide critical information on how CHD7 regulates retinal development, which could lead to development of new therapeutic approaches for the vision impairment associated with CHARGE syndrome.