We analyse large-scale genetic and electronic health record data to explore fine-scale population structure, its impact on disease risk, and the genetic architecture of both rare and complex diseases. We have a particular focus on populations in which parental relatedness (consanguinity) is common. Our current projects use data from the following studies:
- East London Genes and Health (ELGH) is a population-based cohort of British South Asians with high rates of cardiometabolic disease and of parental relatedness (current N~35,000, and growing to 100,000). Electronic health record and genotype data are available on all individuals, and exome-sequence data on ~5,000.
- Born in Bradford (BiB) is a birth cohort with data on ~11,000 mothers and their children, of whom about half have Pakistani ancestry. It was established to investigate determinants of child and adult disease, and includes rich phenotypic and environmental data as well as genetic (genotype and whole-exome) and metabolomic data.
- Deciphering Developmental Disorders (DDD) is a study of >13,000 patients with rare, severe paediatric disorders who have been exome-sequenced and genotyped to find diagnoses, discover new genes and understand the genetic architecture of these conditions.
- Genomics England - 100K Genomes Project (GEL) is a clinical whole-genome sequencing project embedded within the National Health Service, from which the data have been made available for research. We are particularly focusing on the ~20,000 families with rare paediatric disease, of whom ~10% are South Asian.
A key feature of our research is to work in partnership with the individuals and populations we are studying. We uphold strict data security and confidentiality procedures and work closely with cohorts we are studying in community engagement and dissemination of our scientific findings.