PROJECTS
North Carolina Macular Dystrophy (NCMD): Understanding the biology of PRDM13
NCMD is a rare congenital blinding disease, affecting the macula, the region necessary for central vision. Current studies show that patients diagnosed with NCMD harbor duplications or single nucleotide variants within the gene PRDM13. The field currently believes that an overexpression model of PRDM13 best recapitulates phenotypes seen in these patients . In the Rao lab, we are trying to identify the mechanistic functions of PRDM13 in the context of retinal development through our mouse retinal organoid model.
Li-Ghorbani-Weisz-Hubshman Syndrome (LIGOWS): Understanding the biology of KAT8
LIGOWS is a rare syndromic disease identified in 2020 wherein patients with heterozygous point mutations in MOF/KAT8 present with impaired cerebral development, some of whom have vision defects and eye dysmorphisms. MOF is a ubiquitously expressed lysine acetyltransferase that acetylates histone H4 at lysine 16 (H4K16ac) which remodels chromatin promoting an active state of gene expression. The patient mutations which cause vision defects have been found in key portions of MOF, specifically those that encode the chromobarrel domain and the acetyltransferase (HAT) domain. In the Rao Lab, we hope to determine the mechanistic role of the KAT8 in the earliest stages of retinal development through our mouse retinal organoid model.