Principal Investigator: Dr Ron Do
Department: Genetics and Genomics Science
Icahn School of Medicine at Mount Sinai, Genetics and Genomics Science, Madison Avenue, New York, United StatesTags: 16218, architecture, cardiovascular disease, featured, genetics
1a: The major aim of this proposal is to use the genetic data produced by the UK Biobank to investigate key questions related to the genetic and phenotypic architecture of cardiovascular disease. We have a particular interest in studying whether these diseases are comprised of a discrete subset of disease entities.
1b: The UK Biobank’s stated purpose is to improve the prevention, diagnosis and treatment of a wide range of illnesses – including cancer, heart diseases, stroke, diabetes, arthritis, osteoporosis, eye disorders, depression and forms of dementia. Our proposal aims to examine genetic and phenotypic links both within cardiovascular disease and across different traits and diseases. By examining these links, we hope to translate key findings into clinical utility, ultimately leading to advances in the diagnosis, prediction, and treatment of cardiovascular diseases.
1c: We will identify participants of the UK Biobank who have coronary artery disease (CAD) and those without. We will compare the genetics of cases and controls and test if genetic variants are associated with these disease. We will use environmental and lifestyle information to define subsets of these diseases. We will also combine genetic, clinical, environmental and lifestyle information to examine genetic links between CAD and other diseases. Finally, we examine the evolutionary and functional properties of genetic loci for CAD
1d: The full cohort will be used for our research studies.
Project extension – Approved: 28/08/2019
The new scope of the project will be on the genetic and phenotypic architecture of human diseases (both complex and Mendelian). This scope will include cardiovascular disease, and related risk factors (such as blood pressure, body mass index, etc.), metabolites and related diseases (such as type 2 diabetes, heart failure, stroke, etc) but also include other diseases such as chronic kidney disease, eye diseases, etc. The project will use human genetic approaches including genome-wide association methodology (both common variant and rare variant), causal inference using Mendelian randomization, population genetic approaches including polygenic load / burden and natural selection, polygenic scoring, gene-gene and gene-environment interaction methodology, to evaluate the genetic contributors of human disease, including interplay of rare and common variants, and how they are connected to each other. Furthermore, the project will examine how this information can be utilized to inform precision medicine efforts including drug discovery, diagnosis of disease through integration of genetics and clinical risk factors, and other ways that may inform clinical use of human genetic data.
Last updated Aug 28, 2019