Epstein Lab

University of Pennsylvania

GENETICS

Philadelphia · United States

NIH-funded
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NIH R01 · 2025

Pathogenic mechanisms of adult hearing loss caused by Zfp719 mutations

Project Description Hearing loss is the most prevalent sensory deficit in humans. Half of all cases of early onset hearing loss in developed countries have a genetic etiology, with single gene mutations in over 100 different loci identified so far. Mutations in the majority of these genes result in nonsyndromic sensorineural hearing loss, where abnormal inner ear function is the only diagnostic feature. In comparison to children, the genetic causes of hearing loss in adults are less well understood. Approximately, 80% of hearing loss cases are diagnosed after the second decade of life and yet, adults are rarely tested for genetic mutations as a possible cause of their condition. To help…

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