What have we discovered?

In 1997, we discovered for the first time that a fault or variant in a gene which stops it working normally, can cause obesity. The first condition we found was called “congenital leptin deficiency” and the gene that was faulty in these patients was the leptin gene. Leptin is a hormone that is produced by fat cells and works by telling the brain that we are no longer hungry. If this gene is not working, people are unable to make leptin or if they do, it doesn’t work normally. As a result, they feel very hungry and do not know when to stop eating. This condition is fully treatable with a daily injection of leptin. We have successfully treated people with this condition from around the world.

Following this discovery, we established the Genetics of Obesity Study (GOOS) to see if there were other children with the same or similar genetic conditions. With the help of many doctors around the world, we recruited over 8000 patients before closing to recruitment in 2019.

We have identified at least 15 different gene disorders that can cause severe obesity which begins in childhood. These genes work in the brain to control key pathways that are triggered by the hormone leptin and are involved in appetite and metabolism (how your body handles the calories you eat).

We want to learn as much as possible about the genes and how they work. This often involves work in the laboratory to understand how a gene impacts on our cells. To translate this scientific work to benefit patients, we also undertake studies in patients and volunteers where we aim to discover how a faulty gene impacts on the body. Our work is highly collaborative, involving internationally-leading researchers in Universities, Institutes and Companies around the world.

We recognise that to develop targeted treatments to benefit patients, we need to recruit and develop the best researchers (meet the team), who can harness cutting edge technologies to ask important scientific questions.