Molecular Genetics - Monogenic
This group works predominantly on genetic diseases affecting glucose homeostasis; monogenic diabetes (neonatal and maturity-onset diabetes of the young) and hyperinsulinism. Previous projects have focused on developmental spinal and eye movement disorders. Identifying the genetic aetiology provides a diagnosis, predicts prognosis, enables genetic counselling and allows testing of family members at risk of developing, or having children affected with, the disease. New knowledge from research studies is rapidly translated into clinical practice by introducing genetic testing in the NHS laboratory at the Royal Devon & Exeter Hospital. A genetic diagnosis may also improve patient care and as a direct consequence of our research, hundreds of patients with monogenic forms of diabetes have achieved improved glycaemic control by transferring from insulin injections to sulphonylurea tablets. Studying monogenic human disease phenotypes has also led to important scientific insights into physiology, including the genetics of birth weight, and environmental effects such as intrauterine exposure to diabetes.
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