Dr. Frazer is an internationally renowned leader in the field of genome biology. She is the director of UC San Diego Institute for Genomic Medicine and is a professor and founding chief of the Division of Genome Information Sciences in the Department of Pediatrics at UC San Diego. Over the past seven years, Dr. Frazer’s lab has systematically derived and characterized a unique collection of iPSC lines from 222 individuals – referred to as iPSCORE (iPSC Collection for Omic Research). The iPSCORE resource is currently being used to conduct genotype – molecular phenotype correlations in both pluripotent stem cells and iPSC-derived cell types. We have recently completed generating iPSC-derived cardiovascular progenitor cells (CVPCs) from over 135 individuals and are in the process of analyzing how regulatory variants influence the expression of cardiac molecular traits including RNA expression (RNA-seq assays) and chromatin states (ATAC-seq and H3K27ac ChIP-seq assays). We recently established that iPSC-CVPCs are fetal-like, and are leveraging this model system to identify and characterize developmental genetic factors which effect cardiovascular disease later in life by acting in specific fetal cardiac cell types. Overall, our findings provide genetic evidence supporting the fetal origin of cardiovascular disease, provide an analytical framework for identifying fetal acting disease variants by comparing genetic associations across stages of development (i.e. fetal and adult tissues), and show that iPSC-derived tissues can be leveraged to study the function of GWAS variants in relevant cell-types.
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