Discovering new genes and developing a diagnostic tool for lipodystrophy, a step towards understanding lean type 2 diabetes

Some people preferentially store fat around internal organs such as the pancreas rather than under the skin (known as lipodystrophy or unfavourable adiposity). This harmful fat pattern can cause diabetes even with a healthy body weight. Because of this “healthy” appearance, affected individuals are usually missed in routine care. Although genetics strongly influence fat distribution, the causes of lipodystrophy remain poorly understood. This PhD project aims to better understand and diagnose lipodystrophy, with the ultimate goal of identifying novel biology and therapeutic targets and explaining type 2 diabetes in lean individuals. The student will use DNA and clinical data from >1 million people of diverse ancestry to identify new genetic causes of lipodystrophy focusing on rare genomic variation. They will also develop the first clinical prediction tool for lipodystrophy for use in routine practice, building on our previous success developing clinical calculators that are now used worldwide. The student will be based in a world-leading centre for diabetes and genomic research with a strong reputation for developing successful academics. They will be supported by an experienced clinician, bioinformaticians, and statistician, and will gain in-depth training in genomics, big data, and prediction modelling, providing an excellent foundation for their future career.