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The BOS Behind Hearing Loss and Kidney Defects

Researchers at the George Washington University (GW) received a $1.9 million grant from the National Institutes of Health to study the known and unknown genes associated with branchiootorenal spectrum (BOS) disorders, a class of craniofacial abnormalities that cause hearing loss and kidney defects because of genetic mutations.

GW’s principal investigator (PI) on the grant is Sally A. Moody, PhD, chair of the Department of Anatomy and Cell Biology at the GW School of Medicine and Health Sciences (SMHS).

Using data published on the fruit fly Drosophila, Moody and her three co-PIs identified 15 vertebrate proteins that potentially bind to the SIX1 protein, many of them involved in expression in the developing ears and kidney, which could potentially be relevant to BOS. The team will use gain-of-function and loss-of-function approaches to determine whether any of these candidates play a role in inner ear or kidney gene expression and formation. They will also determine the impact, if any, on SIX1 function