Technology ID
E-168-2001-0

TMC1, a Deafness-Related Gene

Linked ID
TAB-553
Inventors
Andrew Griffith (NIDCD)
Edward Wilcox (NIDCD)
Kiyoto Kurima (NIDCD)
Thomas Friedman (NIDCD)
Lead Inventors
Andrew Griffith (NIDCD)
Co-Inventors
Edward Wilcox (NIDCD)
Kiyoto Kurima (NIDCD)
Thomas Friedman (NIDCD)
Development Status
Early stage
ICs
NIDCD
Commercial Applications
  • Development of a genetic diagnostic test for hearing loss
  • Development of pharmaceuticals to treat hearing loss
Hearing loss is a common communication disorder affecting nearly 1 in 1,000 children in the United States alone, and nearly 50% of adults by the age of eighty. Hearing loss can be caused by environmental and disease-related factors; however, hearing loss due to genetic factors accounts for approximately 50% of cases.

The NIH announces the isolation of two novel genes involved in hearing; TMC1, short for transmembrane channel-like gene 1. The inventors have discovered that dominant and recessive mutations in TMC1 underlie two forms of hereditary deafness, known as DFNA36 and DFNB7/11. TMC1 encodes a protein required for normal function of the mammalian hair cell, which plays a critical role within the hearing pathway that detects sound in the inner ear.

The invention discloses TMC1 nucleic acids, vectors, and cells. Also disclosed are methods of detecting hearing loss, or a predisposition to hearing loss, due to a mutation in TMC1, as well as methods for identifying agents that interact with the TMC1 gene in a cell. Nucleic acids and methods of use for TMC2, a gene closely related to TMC1, are also disclosed.

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