Development of a Next-Generation Sequencing (NGS) based test for the diagnosis of Maturity Onset Diabetes of the Young (MODY)
Summary
Diabetes is a global epidemic problem, growing exponentially in Asian countries. About 1.2 million cases of diabetes have been reported in Sri Lanka in 2017. While diabetes is commonly categorized as either Type I or Type II, 1-5% of the patients fall in a separate group called monogenic form of diabetes, which is a result of a single gene change. Among these, Maturity Onset Diabetes of the Young (MODY), often presenting before 25 years of age, comprise the majority. There are 14 genes implicated in MODY, a mutation in any of which can give rise to this condition. The diagnosis of MODY can be confirmed by identification of a specific mutation, and such diagnosis is important as the treatment for MODY would be different from typical Type I/II diabetes.
Objectives
The goal of this research project is to develop a test for MODY diagnosis using NGS and customized bioinformatics analysis. Such a test would have a high economic impact since the appropriate treatment can then be prescribed for those accurately diagnosed, while preventing wastage and adverse patient reactions due to unnecessary treatment by misdiagnosis as Type I or Type II. In addition, this project will also provide a profile of the MODY patients in Sri Lanka for the first time, in terms of the different mutations common or unique to Sri Lankan patients, and the incidence of MODY in Sri Lanka. The test once developed can be directly used for the diagnosis of all future patients suspected of MODY, and has the potential of being commercialized even going into the international market.
Major Equipment Facilitated by Grant
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