Our aim is to identify mutations in known and novel genes in patients with severe early onset obesity recruited to the Genetics of Obesity Study (GOOS).
We have identified mutations in 12 different genes in patients with severe obesity and our laboratory and clinical studies have allowed us to characterise these conditions in detail (see our Publications). The investigation of these genes is increasingly recognised as an important part of the work up of a severely obese child and has been included in guidelines for clinical practice (see useful resources).
The identification of these genes serves as a starting point for the characterisation of their functional and physiological effects, with experimental medicine forming a key part of our research programme. We have been able to provide a treatment for one of these disorders, congenital leptin deficiency, where we successfully treat patients from around the world.