Genetics and Cardiovascular Diseases (GenCAD)
Research type
Research Study
Full title
Genetic, biomedical, and clinical studies of healthy volunteers recruited by genotype and/or phenotype using the NIHR BioResource. The research focuses on cardiovascular-related traits and diseases. This includes traits of relevant risk factors and parameters such as lipids and haematological indices.
IRAS ID
202955
Contact name
Dirk S Paul
Contact email
Sponsor organisation
Cambridge University Hospitals NHS Foundation Trust and the University of Cambridge
Duration of Study in the UK
5 years, 0 months, 0 days
Research summary
Cardiovascular diseases (CVDs) are the leading cause of death both in the UK and worldwide. Large-scale, genome-wide studies have identified genetic variants associated with CVDs (e.g. coronary heart disease, stroke, and cardiomyopathy), their risk factors (e.g. blood pressure and cholesterol levels), and relevant traits (e.g. blood cell indices). The molecular mechanisms underlying the majority of these genetic variants have remained elusive. This study aims to uncover more about the impact of these variants (both novel and confirmed) on the biology of CVDs and related observable characteristics (also called 'phenotypes').
We will apply a broad range of molecular, cellular, and clinical phenotyping techniques to determine the precise biological mechanisms by which each variant impacts upon intermediate traits relevant for CVDs. We aim to improve our understanding of the aetiology and pathophysiology of these phenotypes, and highlight novel targets for therapeutic intervention.
We will use the 'recall-by-genotype' capabilities of the NIHR BioResource to recruit healthy volunteers according to their genotype for each variant of interest, with close matching for demographic and clinical characteristics. Volunteers who meet our defined criteria will be invited to participate in research projects at the NIHR Cambridge BRC Clinical Research Unit and NIHR Cambridge Biomedical Research Centre.
The study involves collection of a blood sample (usually 50 ml); safe, non-invasive clinical assessment (e.g. measurement of blood flow or pressure); as well as performance of laboratory-based functional assays on collected blood samples and constituent components (e.g. DNA, RNA, protein, plasma, serum, white blood cells, and potentially stem cells).
REC name
East of England - Cambridge Central Research Ethics Committee
REC reference
16/EE/0193
Date of REC Opinion
1 Jun 2016
REC opinion
Unfavourable Opinion