Hereditary hearing loss is highly heterogeneous with over 150 genes estimated to underlie congenital non-syndromic hearing loss. Less is known about the genetic basis of, the more common, age related hearing loss. The significance in identification of genes that underlie hereditary hearing loss is purely translational. As more genes are identified, patients can get better genetic counseling, and in the future, personally-tailored hearing restoration. My work on the identification of genes that underlie hearing loss ranges from projects that I spearheaded, using ENU-induced mouse mutants, to contributions to collaborative projects in human or mouse. Our recently identified hair cell-enriched transcripts in mouse, have been translated into a diagnostic discovery panel in collaboration with Richard Smith, PhD (as part of NIH R01, DC003544). Patients who test negative for mutations in the known deafness genes using the Otoscope platform are screened using the discovery panel

Principal Investigator