General Audience

Dr. Churpek studies how inherited (passed-down) genetic changes can lead to blood and other cancers in adults. In the past, doctors didn’t think that inherited risk or family history played a big role in some of these cancers, especially when they started in adulthood or started after cancer-related exposures. But by leading research projects at the University of Chicago and the University of Wisconsin-Madison, she has helped discover new inherited risk factors and genetic conditions that increase the risk for these cancers.

Her team uses special tools to look closely at people’s DNA to find patterns that run in families. One of her main goals is to understand how someone goes from having a genetic risk to actually developing cancer. This helps doctors better understand both inherited and non-inherited (sporadic) blood cancers. In addition, it can help identify the earliest steps in going from normal cells to abnormal cells with the potential to prevent progression to cancer.

Scientific Audience

Dr. Churpek investigates the genetic underpinnings of hematologic malignancies (HM) and their presence in adults with newly diagnosed cytopenias or hematologic cancers. Historically, hereditary susceptibility was not considered a major factor in adult-onset hematologic disease. However, through the management of large hereditary blood disorder and cancer registries at both the University of Chicago and the University of Wisconsin–Madison, she has identified novel inherited risk factors and contributed to defining multiple hereditary HM predisposition syndromes. Her research integrates targeted gene panels, whole exome and genome sequencing, and custom microarrays to uncover rare germline variants underlying familial patterns of disease. A key focus is understanding the stepwise progression from inherited risk to overt malignancy, providing insight into both hereditary and sporadic disease pathways and opening new avenues for prevention.