How we take in, store and use calories is regulated by a complex network of hormones that includes leptin and insulin. Leptin is produced by fat cells and regulates food intake, energy expenditure and body fat. Insulin is produced by the pancreas and controls glucose metabolism and growth. Mutations that disrupt these pathways cause rare but serious diseases that are difficult to treat and lead to premature death.
Cambridge research has identified the genetic basis for multiple distinct diseases, bringing earlier and improved diagnosis, evaluation and management strategies to patients with severe childhood-onset obesity and disorders of insulin action around the world.
For instance, since 2000, the researchers have identified 12 genes that, when mutated, cause severe insulin resistance. Patients with these mutations are at high risk of diabetes, pancreatitis, polycystic ovary syndrome and other serious health issues.
The team has also made critical contributions to the development of licensed therapies (e.g. metreleptin) for subtypes of severe, early-onset obesity and for the metabolic complications of lipodystrophy.
Their expertise has also underpinned the development of a nationally commissioned specialist clinical service improving outcomes for patients with severe insulin resistance. Unique in the world, the National Severe Insulin Resistance Service provides patients with syndromes of severe insulin resistance, including the lipodystrophies, with accurate diagnoses, optimised therapy and educational support.
“It is impossible to exaggerate my experienced benefit of Metreleptin treatment. It has literally changed my life. Indeed, it has saved my life. The NSIRS [National Severe Insulin Resistance Service] has been a beacon in the darkness. Its talented and dedicated team have provided an anchor in a sea of uncertainty. Without them I would never have had access to Metreleptin.”– Patient