Using Whole Exome Sequencing (WES) to identify genes underlying unexplained Maturity Onset Diabetes of the Young (MODY-X)

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Some rare forms of diabetes are purely inherited and are unaffected by the environment, that is they are only due to damaging changes in the DNA sequence of a gene that is passed down through a family. One type of this rare form is called maturity-onset diabetes of the young (MODY), because it resembles common type 2 diabetes (T2D), which is usually seen in people over 40 years, but occurs at a young age, below about 20 years. Seven genes so far have been shown to give rise to MODY but many MODY cases are still of unknown cause. With new advances in DNA sequencing technologies, it is possible to examine all of the DNA in a person?s genome that is translated into the products that go to make up a healthy person. Using this technology, this proposal will aim to identify the changes in the DNA sequence that are responsible for MODY in six unrelated families. This is likely to improve the diagnosis of further MODY families and may affect their treatment as previous findings have enabled MODY patients to be successfully treated with sulfonylureas rather than daily insulin injection. Previous research into MODY has also helped make a significant contribution to the understanding of the genetics of common T2D and there is every reason to believe that the current proposal will also contribute something significant to the T2D field.