基本信息
浏览量:1002
职业迁徙
个人简介
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.
研究兴趣
论文共 1051 篇作者统计合作学者相似作者
按年份排序按引用量排序主题筛选期刊级别筛选合作者筛选合作机构筛选
时间
引用量
主题
期刊级别
合作者
合作机构
LANCETno. 10421 (2024): 55-66
Mark P Steele,Anna L Peljto,Susan K Mathai,Stephen Humphries, Tami J Bang, Andrea Oh, Shawn Teague,Giuseppe Cicchetti, Christopher Sigakis,Jonathan A Kropski,James E Loyd,Timothy S Blackwell,
American journal of epidemiology (2023)
引用0浏览0WOS引用
0
0
Arteriosclerosis, thrombosis, and vascular biologyno. 9 (2023): 1737-1742
引用0浏览0WOS引用
0
0
Luke Cave,Katharine M Lodge,Derick Chiappo, Shivani Sinha, Faiz Chughtai,Adam Tsao,Dorian O Haskard,Justin C Mason,Steve E Humphries,Joseph J Boyle
bioRxiv (Cold Spring Harbor Laboratory) (2023)
加载更多
作者统计
合作学者
合作机构
D-Core
- 合作者
- 学生
- 导师
数据免责声明
页面数据均来自互联网公开来源、合作出版商和通过AI技术自动分析结果,我们不对页面数据的有效性、准确性、正确性、可靠性、完整性和及时性做出任何承诺和保证。若有疑问,可以通过电子邮件方式联系我们:report@aminer.cn