Repeat Polymorphism Gene and Uses Thereof

Description: This invention is based on the finding that there is a link between risk for non-insulin-dependent diabetes mellitus (NIDDM) and frataxin, a gene relating to an ataxia disorder. This disorder is caused by a long GAA expansion in this gene, creating a defective protein. However, patients having an intermediate expansion of GAA nucleotides in this gene do not have the ataxia phenotype but instead are at higher risk for developing NIDDM, making this a useful gene for diagnostics and drug discovery. Clinical & Commercial Utility: The invention includes diagnostic kits and methods to determine if a patient has a genetic susceptibility to NIDDM, based on determining the number of GAA repeats found in the frataxin gene. The invention also includes gene therapy methods to treat NIDDM using the wild type gene. In addition, other therapeutic strategies for diabetes are suggested by the particular biochemistry of the gene product, leading to further potential uses in therapeutics or drug discovery.
Joslin Diabetes Center is the owner of U.S. Patent Number 6,322,978 claiming this invention.

Type of Offer: Licensing

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