Genetic Predispositions for Cancer and Bone Marrow Disorders
Dr. Jane Churpek is a translational physician-scientist and genetic hematologist specializing in hereditary hematologic disorders and cancer predisposition syndromes.
Her research focuses on identifying inherited genetic factors that increase the risk of cancer and bone marrow disorders, particularly among understudied populations, and aims to improve early detection, treatment, and prevention strategies.
Research Overview
Dr. Churpek’s lab research combines human genetics, molecular biology, and biochemical approaches to uncover mechanisms underlying inherited blood, lung, and cancer disorders. Her group applies cutting-edge functional genomics—including CRISPR-based assays, protein modeling, animal models and cell-based reporter systems—to determine the impact of rare and novel germline variants. By integrating biochemical insights with clinical phenotypes, her work reveals how inherited mutations disrupt cellular pathways such as homologous recombination, replication stress response, and telomere stability.
Her laboratory also studies the earliest stages in cancer and blood disorder development trying to understand the multi-step process taking an individual from at-risk to developing overt disease and how exposures may impact this process.
All of these efforts have one ultimate goal: help more patients at risk for cancer or blood disorders to lead long, healthy lives.