Posted on June 18, 2019
In June 2019, Lisa Mirabello, Ph.D., M.S., was awarded scientific tenure by the NIH and promoted to senior investigator in the Clinical Genetics Branch. Dr. Mirabello investigates the etiology of osteosarcoma and other childhood cancers, and the effect of variation within the human papillomavirus (HPV) genome on risk for cervical cancer, the third leading cause of cancer deaths in women worldwide.
For over a decade, Dr. Mirabello has conducted innovative research on osteosarcoma, identifying both common and rare genetic variants associated with susceptibility to this childhood cancer, as well as genetic determinants of metastasis and treatment response. She assembled the world’s largest series of osteosarcoma cases with germline DNA and clinical data, resulting in the first large-scale genome-wide association study (GWAS) of osteosarcoma. She also led the first GWAS of metastatic osteosarcoma that identified a novel association for a single nucleotide polymorphism within the NFIB gene; collaborative studies confirmed the functional importance of this locus.
In parallel, Dr. Mirabello has developed a research program investigating how genetic variation within HPV informs our understanding of the risk for cervical cancer. She leads the HPV Genomics Project, currently the largest international effort to study the viral genome of HPV, using high-throughput next-generation sequencing techniques of the whole HPV genome developed by Dr. Mirabello in collaboration with the DCEG Cancer Genomics Research Lab. Her landmark study, published in 2017 in Cell, established that viral genetics plays a pivotal role in HPV carcinogenesis. Her work has led to seminal observations that have advanced our understanding of the natural history of HPV infection and provided genetic tools to begin to generate more effective screening approaches to control cervical cancer.