The Monthly Researcher Spotlight is our section highlighting the exciting work of the UK Biobank Research Analysis Platform user community. If you would like to be featured, email ukbiobankrap@dnanexus.com.
This was simultaneously published in the August 2024 UK Biobank RAP Newsletter. You can sign up for future installments here.
This month's Spotlight features Elby MacKenzie, a cardiovascular disease researcher studying the genetic determinants of calcific aortic valve stenosis.
Elby MacKenzie
Master's Student
Department of Human Genetics at McGill University
What are the focus and discovery highlights of your research?
My current project focuses on the genetic determinants of calcific aortic valve stenosis, a common cardiovascular disease in the aging population for which there is currently no pharmaceutical treatment. While currently known contributions to this disease come from common polymorphisms, my results have identified several rare variants involved in the development of this disease, possibly changing our understanding of its etiology.
What are some of the key questions that you are looking to answer using UK Biobank data?
For one, I am interested in assessing the impact of clonal hematopoiesis of indeterminate potential, a relatively recently discovered condition driven by somatic mutations, on aortic stenosis. This condition is increasingly prevalent with age and requires large-scale sequencing data to study, which is available in the UK Biobank.
How has the UK Biobank Research Analysis Platform (UKB-RAP) helped you perform your research?
The UKB-RAP provides computational resources that can handle the UK Biobank in its entirety. Specifically, some of my analyses in the UK Biobank require large amounts of memory, which I am able to access on the UKB-RAP.
