Aeron Small
Research Fellow, Broad Institute
1 active project
Aortic Stenosis Genetics
Scientific Questions Being Studied
Calcific aortic valve disease (CAVD) is the most common etiology of aortic stenosis and has a high worldwide morbidity and mortality. There are no effective medical therapies to slow disease progression or reverse the disease course of CAVD. Population level genetic studies provide biologic insights that have enabled new therapeutic targets, such as LPA and PCSK9 for coronary artery disease. The goal of this research workspace in All of Us is to elucidate the genetic basis of CAVD towards enabling medical therapies for which none have been demonstrated to be efficacious to date.
Project Purpose(s)
- Disease Focused Research (aortic valve stenosis)
Scientific Approaches
All of Us data will be used to 1) develop a meaningful biological definition of calcific aortic stenosis using EHR data, 2) use this EHR phenotype to perform a discovery genome wide association study for calcific aortic stenosis, and 3) perform a suite of in-silico trans-omics analyses to prioritize causal variants and causal genes.
Anticipated Findings
This project proposal extends prior work by 1) maximizing power with the inclusion of a much larger population of individuals with CAVD and using contemporary methods for causal variant and causal gene prioritization, 2) incorporates individuals from multiple genetic ancestries with stratified analysis by both genetic ancestry and sex to clarify population level differences in the biology of disease.
Demographic Categories of Interest
This study will not center on underrepresented populations.
Data Set Used
Controlled TierResearch Team
Owner:
- Aeron Small - Research Fellow, Broad Institute
Collaborators:
- Buu Truong - Research Fellow, Broad Institute
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