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个人简介
Professor Elliott's research focuses on advances in genomic medicine and their application to the diagnosis and management of inherited cardiovascular disease; in particular, he has developed low cost high throughput gene sequencing technologies (HTS) that interrogate the entire human genome and offer enormous opportunities for the advancement of knowledge about human health and disease. These are paired with systems that integrate large-scale phenotyping, bioinformatics and functional analyses.
High throughput genetic screening as a tool for early diagnosis
In our NIHR-BRC funded programme we have used hypertrophic cardiomyopathy (HCM) as a model for translation. HCM is a genetic disorder (1:500 adults) that causes sudden cardiac death , stroke and heart failure. It is characterised by marked variability in disease expression and despite 20 years of research, an understanding of genotype-phenotype relations in HCM had remained elusive. Professor Elliott's work shows that genetic heterogeneity causes different but predictable effects on cardiac phenotype and that creation of an integrated genetic testing pipeline can be used to guide therapy and counselling strategies in patients with this and other inherited cardiac diseases. These results are used in national and international guidance on genetic testing in families affected by inherited heart muscle disease:
Use of genotyping in prevention of sudden death
Dilated cardiomyopathy (DCM) affects 1 in 2500 people. Professor Elliott's work in patients with DCM caused by Lamin AC gene mutations (5-8% of call patients) shows that most people who inherit the gene develop disease with a predictable natural history beginning with atrial arrhythmia in early adulthood with subsequent progression to heart block, potentially fatal ventricular arrhythmia and finally progressive heart failure. Early recognition of these characteristic stages of disease facilitates much earlier diagnosis for patients and families and has led to development of predictive models that identify patients that benefit from early treatment with ICDs.
Clinical Risk Tools
Professor Elliott's risk algorithms for hypertrophic cardiomyopathy have formed the basis of International guidance on implantable cardioverter defibrillators (ICD) in European and American practice guidelines for over 10 years and are incorporated into specialist society statements
研究兴趣
论文共 805 篇作者统计合作学者相似作者
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JAMA CARDIOLOGYno. 1 (2024): 25-34
Heart Failure Reviewsno. 1 (2024): 151-164
EUROPEAN HEART JOURNALno. 7 (2024): 549-551
Canadian Journal of Cardiology (2024)
HEARTno. 3 (2024): 156-162
Future cardiologyno. 1 (2023): 7-17
bioRxiv (Cold Spring Harbor Laboratory) (2023)
Circulation. Heart failureno. 8 (2023)
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HEARTno. 1 (2023): A11-A12
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