Our Faculty
Amit V. Khera, MD, MSc
Dr. Khera is a physician-scientist with expertise in epidemiology, clinical medicine, and human genetics. Among his scientific contributions, he pioneered a new approach to quantify genetic risk for common diseases, developed biomarkers that provide new biologic insights, and analyzed large-scale gene sequencing data to highlight key pathways underlying risk for coronary artery disease. His research program uses genetic variation as a tool to uncover new biology and enable enhanced clinical care informed by inherited susceptibility.
Questions being addressed in the lab
- What can the molecular signatures of inherited susceptibility teach us about disease biology?
- What is the diagnostic yield and clinical utility of genetic testing across a range of important diseases?
- How can genome interpretation enable tailored screening or preventive measures prior to disease onset?
Projects underway to answer these questions
Characterize genetic and non-genetic modifiers of the relationship between rare pathogenic mutations and phenotype.
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Identify new pathways or biomarkers for a given disease, through molecular profiling of asymptomatic people at the extremes of a polygenic score distribution
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Identify high-risk patients ‘flying under the radar’ within our MGH clinical practice and facilitate disclosure and tailored care within a preventive genomics clinical program
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Answers Found
Rare genetic mutations in lipoprotein lipase prevent clearance of dietary fat from the circulation and are linked to increased risk for heart attack.
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Familial hypercholesterolemia mutations are present in 2% of those with severely elevated cholesterol levels, but – if present – confer markedly increased risk of coronary artery disease.
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A genome-wide polygenic score for coronary artery disease identifies 8% of the population with risk equivalent to a rare monogenic mutation.
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Highlighted Publications from the lab
Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations
August, 2018