C04260: Method for Finding Mutations Caused by the Insertion of Repeated DNAsNovelty:
This invention provides a novel method for identifying repeat insertion mutations, useful for identifying or classifying genetic diseases, and mapping complex traits controlled by repeat insertions.
Value Proposition:
Currently available human mutation detection methods, focusing only on coding regions of genes, are unable to detect and identify diseases which are caused by repeat insert mutations in introns and other noncoding regions of the genome. This novel method has the unique advantage of being able to identify repeat insertion mutations outside of gene coding regions as well as inside coding regions, thus allowing identification of genetic alterations that otherwise would go undetected. Additional advantages of this method include:
• Automatable
• Ready to use kit available for analysis
• Applicable for whole genome analysis
• Applicable for finding mutations controlling complex traits in other organisms
• Apt for discovering repeat insert mutations in cancer, classifying tumor types and identifying tumor suppressor genes
• Potential development of novel diagnostics for cancer, neurological disorders and other diseases caused by repeat insertion mutations
Technical Details:
Johns Hopkins researchers have designed a method called Human Repeat Array (HuRA), for screening for the presence of retrotransposon insertions into human genes. Based on use of a DNA microarray, this method comprises hybridizing copies of one or more DNA segments from mammalian subjects affected and unaffected by the mutation to a Human Repeat Array, and determining the ratio of segments containing human repeat sequences present in affected subject samples relative to human repeat sequences present in unaffected subject samples. This method is easily automatable.
Looking for Partners:
To develop and commercialize the technology as research tool to identify repeat insert mutations and study the diseases caused by them such as cancer and neurological disorders.
Stage of Development:
Pre-Clinical
Data Availability:
Data validated with patient samples
Publications/Associated Cases:
Not available at this time
