Description of Invention:
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.
Applications:
Development of a genetic diagnostic test for hearing loss
Development of pharmaceuticals to treat hearing loss
Market:
Hearing loss with a genetic component accounts for 50% of all cases of hearing loss.
Patent Status:
DHHS Reference No. E-168-2001/0 --
U.S. Provisional Application No. 60/323,275 filed 19 Sep 2001
PCT Application No. PCT/US02/29614 filed 19 Sep 2002, which published as WO 03/025140 on 27 Mar 2003
U.S. Patent No. 7,192,705 issued 20 Mar 2007
U.S. Patent Application No. 11/615,250 filed 22 Dec 2006
Foreign counterparts in Australia, Canada, Europe, and Japan
DHHS Reference No. E-168-2001/1 --
U.S. Patent No. 7,116,433 issued 23 Jan 2007
Foreign counterparts in Australia and Canada
Relevant Publication: K Kurima et al. Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. Nat Genet. 2002 Mar;30(3):277-284. [PubMed abs]
Licensing Status: Available for non-exclusive licensing.
Collaborative Research Opportunity:
The NIDCD Otolaryngology Branch is seeking statements of capability or interest from parties interested in collaborative research to further develop, evaluate, or commercialize this technology as well as collaborate on further pre-clinical and clinical studies with the TMC2 gene mutations. Please contact Ms. Marianne Lynch at 301-402-5579 or via email at lynchm@nhlbi.nih.gov for more information.
