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TMC1, a Deafness-Related Gene

Posted Apr 30 2007 5:00pm

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


Development Status:
Early stage

Inventors:
Andrew Griffith (NIDCD)


Patent Status:
HHS, Reference No. E-168-2001/0
US, , Patent No. 7,192,705, Issued 20 Mar 2007
HHS, Reference No. E-168-2001/1
US, , Patent No. 7,659,115, Issued 09 Feb 2010


Relevant Publication:
  1. 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.


Portfolios:
Internal Medicine
Internal Medicine - Diagnostics
Internal Medicine - Therapeutics
Rare Diseases



For Additional Information Please Contact:
Suryanarayana Vepa Ph.D.
NIH Office of Technology Transfer
6011 Executive Blvd. Suite 325,
Rockville, MD 20852
United States
Email: vepas@mail.nih.gov
Phone: 301-435-5020
Fax: 301-402-0220


Ref No: 553

Updated: 05/2007

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