UCL Genetics Institute


Prof Steve Humphries

Prof Steve Humphries


BHF Laboratories, The Rayne Building
5 University Street


  • Emeritus Professor
    Institute of Cardiovascular Science
    Faculty of Pop Health Sciences

Joined UCL


A large part of your research activities focus on a monogenic paradigm of early heart disease called Familial hypercholestereolaemia. I have been a committee member of the Simon Broome UK FH register since 1991 and have co-authored a number of key papers from the Register documenting the natural history and the underlining molecular causes of the disease. We have developed and applyed high-throughput methods for mutation screening, and have established a clinical genetics service for FH and the DNA diagnostic laboratory in the Institute of Child Health London, which has been running since 1995 with over 900 referrals to-date. Recently, this has resulted in the commercial development of a simple, quick and cheap kit to test for 20 common FH-causing mutations that will detect the mutation in ~450% of patients. In 1996, we established a website database for all known LDLR mutations (http://www.ucl.ac.uk/fh) and this database, which was updated in July 2007, now contains 1000 different molecular causes of FH and is regularly receiving more than 1000 hits/month worldwide. We have developed assays to test both for sequence changes effecting promoter strength and splicing to determine causality of identified sequence changes. With colleagues at the LSHTM, we demonstrated convincingly the cost effectiveness of cascade testing for FH and with other colleagues at King's have examined the psychological impact of genetic testing in FH families. This influenced government thinking such that the White Paper in 2003 "Our inheritance our Future" included a commitment to a pilot project for cascade testing in the UK, and we headed the coordinating centre for this project. A report of this work was sent to the Department of Health in October 2007 and the data obtained has had a major impact on shaping the recommendations of the NICE guidelines for the identification and management of FH which was published in August 2008 and for which I was the lead clinical advisor. With the Royal College of Physicians I am currently developing an audit of the management of FH patients in the UK, and all these outputs taken together will have a significant beneficial impact on the management of this high risk group of subjects.both healthy men and women and of patients with heart disease collected through collaboration with clinical and epidemiological colleagues.


Acute myocardial infarction|*|Angina|*|Anti-sense and morpholino approaches|*|Atherosclerosis|*|Bioinformatics|*|Biomarker|*|Biostatistics|*|Calcium imaging|*|Cardiovascular|*|Cell culture|*|ChIP-Chip|*|ChIP-Seq|*|Chromatin immunoprecipitation|*|Computational modeling|*|Computational models|*|Coronary disease|*|Cytokine assays|*|Cytokines|*|Diabetes|*|ELISA|*|Enzyme assays|*|Epidemiology|*|Epigenetics|*|Evidence-based healthcare|*|Fetal growth restriction|*|Genetic manipulation (including knockout/knockin)|*|Genetic screens|*|Genetically encoded reporters/indicators|*|Genetics|*|Genomewide association analysis|*|Genomic analyses|*|Genomics|*|Heart disease|*|Human cell culture|*|In vivo models|*|Inflammation|*|Ischaemic heart disease|*|Ischaemic heart failure|*|Linkage, mapping and positional cloning|*|Lipid|*|Lipoproteins|*|MRNA|*|Mathematical modelling|*|Mendelian randomisation|*|Meta-analysis|*|Metabolic syndrome|*|Microarrays|*|Molecular epidemiology|*|Mouse|*|Networks|*|Nutrition|*|Obesity|*|Oral Disease|*|Oxidative stress|*|Pathology|*|Pharmacogenomics|*|Population|*|Prognostic markers|*|Protein misfolding|*|Public health|*|QPCR|*|Recombinant protein expression|*|Smoking|*|Statistics|*|Stroke|*|Survey methods|*|Systematic review|*|TGF-beta|*|Transcription factor|*|Transgenic mice|*|Vitamin D|*|Western blotting