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Dr. Borecki's research efforts are motivated by human health concerns with the overall, long view goal of describing the genetic and environmental etiology of certain diseases and / or their risk factors. She has published over 90 manuscripts and has investigated traits in a number of different domains including: lipids and lipoproteins (especially hypoalphalipoproteinemia), atopy and immunoglobulin levels, hemochromatosis and indicators iron overload and stores, endogenous hormone levels and coronary heart disease, and susceptibility to leprosy. In recent years, she has focussed her efforts in phenotypes related to cardiovascular disease, especially obesity and body composition. She is an active investigator on several NIH-sponsored studies including the Family Heart Study (of coronary heart disease and its risk factors), the HERITAGE study (of body composition, cardiovascular risk factors, and fitness in response to a standardized exercise training protocol), and the Quebec Family Study (of adiposity and regional fat distribution). Newer areas of interest including applying methods of genetic epidemiologic analysis to understanding the process of aging and longevity, and also to variability in individual response to pharmacologic treatments. In addition to these applied areas, Dr. Borecki also has a strong interest in evaluating approaches and methods for genetic analysis of complex traits. She has carried out a number of methodological investigations on widely-used statistical genetic methods using simulated as well as real data to understand their strengths and weaknesses. She is a regular participant in the Genetic Analysis Workshops, for which she has also served as an editor of the proceedings and workshop organizer. Dr. Borecki also teaches medical and graduate students, and is a frequent invited speaker for NIH-sponsored special workshops and panels.