Common Disease Genetics and Genomics

Figure 1.  One of the earliest Manhatten plots, for the Type 2 Diabetes component to the Wellcome Trust Case Control Consortium in 2007: the plot includes peaks for genetic variants in or near the TCFL72, CDKAL1, and HHEX genes. The peak on chromosome 16 in the FTO gene, represents the first common genetic variant associated with obesity.

The team study the genetics and genomics of common metabolic disease, focusing on diabetes, obesity and related conditions. To do so, we use a combination of genetic analysis, large international and local datasets and clinical studies involving patients and clinicians. We also have research interests in Type 1 diabetes, led by Lauric, and cancer, led by Aurélie.

Excitingly, human data now involve whole genome sequences from 100’000s people linked to extensive medical and health information, such as those released in 2023 by the UK Biobank and AllofUS studies. Furthermore, we are members of large international consortia that bring together researchers from all parts of the world to help identify and understand the genotype-phenotype relationships that influence health and disease.These collaborations include DIRECT, SOPHIA and GIANT.

In addition to colleagues in the GEDEV department and Faculty of Medicine, we collaborate closely with research teams in Exeter, Copenhagen, Bristol, Boston and Lausanne and are members of the Swiss Institute for Bioinformatics.