What have we discovered ?
In 1997, we identified the first patients with a problem in a gene that caused their severe obesity. The condition 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 it works by telling the brain that we are no longer hungry. If this gene is not working, people always feel hungry and do not know when to stop eating. Having identified the gene, we have successfully treated patients with this condition.
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. To date, with the help of many doctors around the world, we have recruited 4500 patients.
We have identified 8 different gene disorders that can cause severe obesity in childhood. These genes work in the brain and 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 so that we can help our patients and work towards using this knowledge to develop more targeted treatments in the future.