Familial hypercholesterolaemia (FH) and lipid genetics study group

TBC

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). 

Highlights