Cross-cutting discipline leads: Professor Chris Mathew and Professor Ellen Solomon
Many hundreds of genetics disorders exist which arise from mutations in a single gene, eg cystic fibrosis, Huntington's disease, and familial breast cancer. The genes for most of the more common genetic disorders have been identified, and accurate diagnostic tests are now available. However, the genes responsible for many rare single gene disorders are unknown. Identifying these is a basis for diagnosis and the development of future therapies.
It is now clear that most common disorders such as diabetes and cancer develop from a combination of genetic susceptibility and environmental effects. Identification of the genes involved will provide clues to the pathogenesis, and is likely to lead to improved diagnosis, disease classification, presymptomatic screening and the development of therapies targeted at the relevant pathways.
We are focused on:
Development of a psoriasis transcriptome signature correlated with underlying genetic profile, disease phenotype and therapeutic response
Use of genetic and serum biomarkers for presymptomatic screening of first degree relatives of patients with Crohn's disease
Our interdisciplinary programmes
We lead one of the BRC's interdisciplinary research programmes:
We are also involved in a number of other interdisciplinary programmes:
Recent publications include:
Genetic Analysis of Psoriasis Consortium & the Wellcome Trust Case Control Consortium 2, Strange A, Trembath RC et al. A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. Nat Genet. 2010 Nov;42(11):985-90. Epub 2010 Oct 17.
UK IBD Genetics Consortium WellcomeTrust Case Control Consortium 2, Lees CW, Prescott NJ, et al. Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region. Nat Genet. 2009 Dec;41(12):1330-4
Prescott NJ, Dominy KM, Kubo M, Lewis CM, Fisher Sa, Redon R, Huang N, Stranger BE, Blaszczyk K, Hudspith B, Parkes G, Hosono N, Yamazaki K, Onnie CM, Forbes A, Dermitzakis ET, Nakamura Y, Mansfield JC, Sanderson J, Hurles ME, Roberts RG, Mathew CG. Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease. Human Molecular Genetics 2010 Jan:19 (9):1828-1839.
Who we are
The BRC's medical and molecular genetics cross-cutting discipline brings together King's College London's Division of Genetics and Molecular Medicine and the Department of Clinical Genetics at Guy's Hospital.
Guy's Hospital is home to the South East Thames Genetics Service, and offers a full diagnostic, genetic counselling, and genetic testing service to individuals and families affected with genetic disorders. This service is underpinned by three laboratories (DNA diagnostics, cytogenetics laboratory and biochemical genetics).
Genetics research is an important part of King's Health Partners Academic Health Sciences Centre.
Dr Amanda Lindsay PhD
BRC Resource Manager: Genetics cross-cutting discipline
Phone: 020 7188 4829