The project team, led by Katie Miller, PhD, postdoctoral scientist in Research Information Solutions and Innovation (RISI) at The Research Institute at Nationwide Children’s, was one of only two awardees out of 80 submissions for the AHA grant. Simon Lin, MD, MBA, chief research information officer at The Research Institute, is the principal investigator for the project, and Vidu Garg, MD, director of the Center for Cardiovascular Research at The Research Institute and physician in The Heart Center at Nationwide Children’s, is co-principal investigator. Additional members of the research team include Kim McBride, MD, MS, principal investigator in the Center for Cardiovascular Research at The Research Institute and division chief of Molecular and Human Genetics; Soheil Moosavinasab, MS, data scientist in RISI; Matt Bailey, full stack web developer on the RISI R&D team; and Ashley Kubatko, MS, PMP project manager for The Research Institute.
“Specifically, our research is aimed at identifying gene mutations responsible for human heart disease,” explains Dr. Miller. “Research efforts have revealed rare, single base changes in DNA that can explain why some individuals have heart disease. We have developed a web application called Genome Dashboard that allows researchers or clinicians to upload genome sequencing data and interactively explore the data to identify gene variants, if any, that may be causal for a patient’s disease.”
“The CGX will allow users to upload, analyze and share genomic sequencing data and communicate research and clinical findings related to heart disease and precision medicine,” says Dr. Lin. “It will also provide a valuable, necessary resource for the cardiovascular research community to pursue research avenues that might otherwise be dismissed or impossible, due to limitations in aggregation, access, or use of large genomic datasets and clinical data.”
“The promise of precision cardiovascular medicine and care can be realized when research and technology come together to deliver new insights,” said Jennifer Hall, PhD, Chief of the AHA Institute for Precision Cardiovascular Medicine. “The AHA and AWS collaboration will unite the global research community to accelerate discovery in cardiovascular health and usher in a new era of tailored prevention and treatment that will help patients and lessen the global burden of cardiovascular disease.”
According to the team, harnessing the collective intelligence of many researchers and clinicians is not typically leveraged like this in the analysis of genomic data. Their hope is that identifying gene mutations in cardiac patients could ultimately help tailor disease treatments for individuals or groups of patients, an approach known as “precision medicine.” Additionally, the team anticipates that this project will inform and inspire the design of future large-scale tools for data sharing among research communities.
