Metabolism, endocrinology and bone

Our research is helping to increase our understanding about metabolic, endocrine and musculoskeletal diseases – why they occur, and how we can more effectively treat and even prevent them.

We work on common conditions such as obesity and diabetes, which are responsible for widespread, major health problems. Our investigators have identified several genetic causes of obesity, including defects in genes that normally act in the brain to control appetite and energy balance (the relation between what you eat and drink and what you burn off through physical activity).

Here are some of the conditions that we are currently researching:

  • Insulin resistance is where people are unable to respond normally to insulin (the hormone that helps our body burn glucose, or sugar). Usually found in people who are overweight, it can lead to type 2 diabetes, fatty liver disease, coronary artery disease and some cancers. We are looking at the genetics of both common and rare forms, to understand why these genetic changes lead to insulin resistance. This will help us to develop preventative strategies and therapies.
  • Our research is also looking at conditions where excessive insulin signalling (instructions to other parts of the body) leads to disfiguring overgrowth syndromes.
  • In type 1 diabetes the pancreas is unable to produce insulin. Our team is pioneering the development and use of the ‘artificial pancreas’, a portable medical device that replaces the missing insulin in the body, reducing the risk of hypoglycaemia (low blood sugar). The prototype system is currently being tested by people in their own homes.
  • We also research rare diseases that can have devastating consequences for patients and carers, including lysosomal storage diseases such as Tay-Sachs and Sandhoff. These are rare, recessive disorders resulting in severe mental retardation and early death. Our work has led to improvements in how these diseases are diagnosed and managed and while no effective treatment exists, we are working on novel forms of gene therapy.
  • Back and joint pain is the main cause of work-related illness in the UK. Fractures from osteoporosis alone cost an estimated £1.8 billion annually. Our research into musculoskeletal diseases like arthritis and osteoporosis has led to advances in treatments and to the development of new tools which will identify ‘high risk’ people, including those likely to develop osteoarthritis.
  • Endocrine disorders, including thyroid disorders, affect up to 10% of people in the UK. We are world leaders in evaluating and developing treatments for unusual forms of thyroid disorders, and new tools that we have developed could greatly improve pituitary and adrenal tumours’ diagnosis and treatment.