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Members
Steve E Humphries, Emeritus Professor Cardiovascular Genetics
Philippa J Talmud, Emeritus Professor
Jackie Cooper, Statistician
Jacquie Mitchell, Research Technician
Dr Narges Amini, Research Associate
Dr Michael Sheridan, Post-doctoral fellow
Overview
Professor Humphries continues research to develop and implement
molecular strategies to identify patients with Familial Hypercholesterolaemia
(FH) which is a common monogenic cause of early heart disease. He is involved
in research to find new genetic causes of FH (1) and his recent work has
confirmed that the prevalence of individuals carrying an FH-causing mutation is
~1/270 (2), which is roughly 2-fold higher than previously thought. Recent work has shown that patients with a
clinical diagnosis of FH but with a polygenic cause of their phenotype have
lower levels of atherosclerosis in the carotid and coronary arteries than matched
monogenic patients (3). He was the Lead Advisor to the UK NICE
guidelines on FH published in 2008, and also served on the NICE 2017
update of these guidelines. He directed the 2010 UK audit of FH services and
has set up an FH Pediatric Register under the auspices of the RCP and RCPCH
(4). He has recently published on the health economics of cascade testing for
FH (5), and is the Director of the international FH mutation database (6).
Work also continues on developing “Gene-Scores” of multiple SNPs in combination to use as diagnostic tools for individuals at risk of diabetes (7) and CHD (8, 9) and in distinguishing monogenic and polygenic FH patients (10) and as instruments for Mendelian Randomisation analyses of the causality of lipid traits in determining risk of these disorders (10).
- Futema M, Cooper JA, Charakida M, Boustred C, Sattar N, Deanfield J, Lawlor DA, Timpson NJ; UK10K Consortium, Humphries SE, Hingorani AD. Screening for familial hypercholesterolaemia in childhood: Avon Longitudinal Study of Parents and Children (ALSPAC). Atherosclerosis. 2017 May;260:47-55.
- Sharifi M, Higginson E, Bos S, Gallivan A, Harvey D, Li KW, Abeysekera A, Haddon A, Ashby H, Shipman KE, Cooper JA, Futema M, Roeters van Lennep JE, Sijbrands EJG, Labib M, Nair D, Humphries SE. Greater preclinical atherosclerosis in treated monogenic familial hypercholesterolemia vs. polygenic hypercholesterolemia. Atherosclerosis. 2017 May 13. pii: S0021-9150(17)30218-6.
- The UK Paediatric Familial Hypercholesterolaemia Register: preliminary data. Ramaswami U, Cooper J, Humphries SE; FH Paediatric Register Steering Group. Arch Dis Child. 2017 . Mar;102(3):255-260.
- Kerr M, Pears R, Miedzybrodzka Z, Haralambos K, Cather M, Watson M, Humphries SE. Cost effectiveness of cascade testing for familial hypercholesterolaemia, based on data from familial hypercholesterolaemia services in the UK. Eur Heart J. 2017 Apr 6. doi: 10.1093/eurheartj/ehx111
- Leigh S, Futema M, Whittall R, Taylor-Beadling A, Williams M, den Dunnen JT, Humphries SE. The UCL low-density lipoprotein receptor gene variant database: pathogenicity update. J Med Genet. 2017 Apr;54(4):217-223
- Talmud PJ, Shah S, Whittall R, Futema M, Howard P, Cooper JA, Harrison SC, Li K, Drenos F, Karpe F, Neil HA, Descamps OS, Langenberg C, Lench N, Kivimaki M, Whittaker J, Hingorani AD, Kumari M, Humphries SE. Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study. Lancet. 2013 Apr 13;381(9874):1293-301.
Highlights