Gene Discovery

We continue to explore the importance of new candidate genes that emerge from model organisms to see if patients in GOOS may have mutations in these candidate genes.

 
With the development of new technologies we can undertake genome wide screens to look for different types of genetic variation. We reported the first copy number variants (CNVs) implicating the SH2B1 gene in obesity and severe insulin resistance (see Publications).

 
The state of the art technique for finding low frequency/rare genetic variants relies on next generation sequencing technologies to undertake whole exome sequencing. We play a major role in the UK10K consortium to identify rare variants in health and disease (www.uk10k.org). Two thousand of these patients will be severely obese patients from SCOOP (Severe Childhood Onset Obesity Project) – the UK Caucasian subset of GOOS.

 
We have undertaken a genome wide association study in SCOOP patients to identify novel common SNPs and CNVs and are happy to collaborate with groups undertaking genome wide studies in obesity and type 2 diabetes.

 
In these areas, we collaborate with Drs Ines Barroso and Matt Hurles at the Wellcome Trust Sanger Institute, located just outside Cambridge which is one of the major centres for genetics research in the world.