After a decade of focus on the neurogenetics of Parkinson and Alzheimer disease, Pankratz has expanded his research efforts to investigate genes and biomarkers associated with cardiovascular disease and cancer. He conducts meta-analyses of data sets from large-scale studies of these diseases using linkage analysis, genome-wide association studies (GWAS), analysis of copy number variation (CNV), and analysis of targeted whole-exome and whole-genome sequencing data produced by next-generation sequencing (NGS) technologies. NIH-sponsored cohort studies such as the Atherosclerosis Risk in Communities (ARIC) study and the Coronary Artery Risk Development in Young Adults (CARDIA) study give Pankratz and his fellow collaborators large data sets to analyze in their search for genetic factors involved in cardiovascular disease (CVD). These meta-analyses usually involve multiple institutions and collaborators, often under the banner of the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium. Pankratz has led exome-wide meta-analyses for the CHARGE working groups focused on hemostatic factors, hematology markers, and inflammatory biomarkers of CVD, using data from as many as a hundred thousand research participants. Large-scale genome-wide association studies focused on CNVs will go a long way toward clarifying their role in health and disease.
