General Audience

Dr. Jane Churpek studies how inherited changes in certain genes can affect telomeres- protective caps at the ends of our chromosomes. When telomeres don’t work properly, it can lead to rare genetic conditions called telomere biology disorders (TBDs). These can be caused by changes in genes like TERT, TERC, RTEL1, and DKC1.

Dr. Churpek’s research looks at how these gene changes can make it more likely for someone to develop serious health problems like blood cancers (such as leukemia), lung scarring (pulmonary fibrosis), and other cancers at an early age. She partners with her patients and their families to better understand these conditions and how to diagnose them earlier.

She also helps create guidelines for how doctors should screen for and care for people with TBDs. Her work supports better genetic counseling and aims to bring the latest research into real-life medical care to help patients and their families.

Scientific Audience

Dr. Jane Churpek’s research related to telomeres focuses on understanding how inherited mutations in genes involved in telomere maintenance contribute to hereditary cancer risk, bone marrow failure syndromes, and pulmonary fibrosis. Her work explores telomere biology disorders (TBDs), a spectrum of rare genetic conditions caused by defects in telomere maintenance genes.

In particular, Dr. Churpek investigates how these inherited mutations impact genomic stability and increase the risk for hematologic malignancies (like myelodysplastic syndrome and leukemia), pulmonary fibrosis, early-onset cancers, or other health problems. Her research integrates genetic testing, family history, clinical phenotyping, and laboratory-based functional testing to improve diagnosis and management for individuals and families affected by TBDs.

She is also a contributor to studies developing guidelines for screening and clinical management of patients with TBDs and works toward improving genetic counseling approaches for families with these inherited syndromes. Through this research, Dr. Churpek helps bridge the gap between telomere biology and precision medicine.