We know that some people carry rare mutations that disrupt the normal function of critical metabolic pathways, leading to conditions such as obesity and/or diabetes. Genome sequencing studies are increasingly identifying such rare mutations. Using knowledge about the precise structure and function of the proteins encoded by these genes, as well as experimental data generated in the lab, we can determine which rare variants are likely to be disruptive.

After identifying mutations that disrupt protein function, we can use the wealth of data available in ALSPAC to determine how possessing a disrupted protein affects a persons growth and metabolism. This will allows us to infer the function of proteins in human physiology, and will identify new drug targets for metabolic diseases like obesity and diabetes.