Profile
Research Theme: Genomic Medicine
I am Professor of Genetics at Queen Mary University of London, Honorary Consultant Physician at Barts Health NHS Trust. I trained in clinical research with a Medical Research Council Clinical Training Fellowship and a Wellcome Trust Clinician Scientist Fellowship.
My current research interests are population genomic medicine of British Bangladeshi and British Pakistani communities, with genetics, NHS health data and recall for further studies based on genotype/phenotype. I am Chief Investigator for the Genes & Health longitudinal population study: www.genesandhealth.org
I was a member of the Medical Research Council Population and Systems Medicine Board (2016-2022). I was deputy Chief Clinical Information Officer for Barts Health NHS Trust (2013-2024).
Centre: Genomics and Child Health.
Genes & Health logo
Research
Research Interests:
Current research interests
I am Chief Investigator of Genes & Health, a large scale, long-term community based health research study of (British-) Bangladeshi- and Pakistani-origin volunteers with genetics, NHS health records, and volunteer recall for further medical research studies. I co-lead the study with Richard Trembath and Sarah Finer.
In 2024, Genes & Health recruited its 60,000th volunteer, along with GSA chip genotyping and TOPMed-r3 imputation, high depth exome sequencing, and multisource NHS health record linkage (including primary care, secondary care including pathology and radiology, and national NHS Digital datasets).
Please see www.genesandhealth.org
See Publications from Genes & Health
As of Jan 2024, Genes & Health impact included 10 papers in Nature, two in Nature Genetics, two in Nature Medicine, two in Cell and one in Science, transforming clinical and genetic research in health deprived British Bangladeshi and Pakistani communities, and bringing over 120 groups of researchers, nationally and internationally, to work on the cohort.
I have a particular interest in "human knockouts", rare variant homozygous loss of function (or deleterious missense) genotypes naturally occurring in healthier adults. We published the first study in this field "Health and population effects of rare gene knockouts in adult humans with related parents" in Science 2016, PMID 26940866 (free full text access).
Improving the health of South Asian people
Previous research interests
My first really good research paper was in Crohn’s disease, the functional effects of NOD2 genotype on leucocytes from patients with disease predisposing mutations. I showed that muramyl dipeptide sensing was predominantly impaired at low doses but restored for most genotypes (except frameshift LOF) at higher doses (Lancet 2005, PMID: 15910952). This recall by genotype study has led to many more in different disease and scientific areas.
I published the first GWAS in coeliac disease, along with multiple further papers (Nature Genetics 2007, 2008, 2010, NEJM 2008; PMID 17558408, 18311140, 19073967, 20190752). We confirmed and further explored the strong role of HLA, and that there were thousands of other variants in immune genes each of small effect (polygenic risk). Genes were all involved in the immune system, there was no evidence for previous hypotheses of gut changes or peptidase changes.
I performed several studies (with Dr Bob Anderson, e.g. Science Translational Medicine 2010, PMID 20650871) on immunodominant epitopes of wheat, spelt, rye, and barley in coeliac disease, involving gluten challenges and T cell assays in HLA genotyped coeliac volunteers. This work led to clinical trials of a novel immunotherapeutic.
