Meet Our Researchers

Amit Khera

Postdoctoral fellow in Sekar Kathiresan’s lab at the Broad Institute of MIT and Harvard
Cardiologist at Massachusetts General Hospital
Instructor in Medicine at Harvard Medical School
The Question

Sudden cardiac death causes 325,000 deaths a year in the United States. Though we can use genetic testing for certain groups of patients, like those with high cholesterol, we don’t know the biomarkers for most patients at risk of this fatal condition. One place to start is with the genetic mutations associated with the four significant causes of sudden cardiac death: heart attacks, tears in a major blood vessel, abnormal heart structure, and electrical problems in the heart. If we can identify genetic variants associated with these four causes, can we then make genetic testing a more useful clinical tool, to a wider set of patients?

The Approach

Our team will use new analytics and computational methods to connect the variants associated with sudden cardiac death to the measurable data we gather from patients: high cholesterol, to be sure, but also heart pumping function and electrical tracings from heart intervals. Collaborating with Partners HealthCare Personalized Medicine, we’ll use bioinformatics filters to narrow down our initial list of variants from tens of thousands to a few hundreds. We’ll then take the final step: narrowing the list to where, if you were a patient’s doctor, you’d be comfortable handing them a report saying they have a variant that increases risk.