My scientific training, expertise and research interests throughout my career have focused on the role of altered genetic and epigenetic states in disease etiology and outcomes. My doctorate/postdoctoral training focused on the role of genomic imprinting (parent-of-origin epigenetic states) in embryogenesis and congenital disease. Thereafter, my research focus evolved to the study of cancer. A particular focus was the role of constitutional methylation (epimutation) as a new cause for high-risk cancer syndromes and the variable intergenerational inheritance patterns associated with this epigenetic defect. My seminal research in this particular field has led to first- or senior-author publications in high-impact journals including the New England Journal of Medicine, Nature Genetics, Cancer Cell, Gastroenterology and Nature Reviews Cancer.
A related interest is the interaction between genetic variants (e.g., single nucleotide polymorphisms) and epigenetic change; my research on how these interactions may contribute to cancer risk or treatment outcomes has been published in high-tier journals, including Clinical Cancer Research. I am also involved in the development and application of DNA methylation biomarkers for tumor subtyping and prognostication, and for the detection of circulating tumor DNA (ctDNA) in cancer.
Overall, I have published 62 papers in scientific journals and several book chapters. When I was an assistant professor in Australia, my entire salary was funded (100 percent full-time equivalent) by federal Career Development Awards (assistant professor level) from the Cancer Institute and the Australian National Health and Medical Research Council from 2008 until rescinded in 2013, and my research projects were funded by various federal and state R01- and R21-equivalent project grants. In 2012, I relocated to the U.S., took a nine-month maternity leave and then began as associate professor at Stanford University in July 2013.
I moved to Cedars-Sinai in July 2017, attracted by the excellent infrastructure and value placed on translational research. My lab’s translational research into the unusual genetic/epigenetic risk factors for cancer, and early detection and monitoring of cancer via the development and clinical testing of DNA methylation biomarkers, is greatly facilitated by close collaborations with the clinicians in the Cedars-Sinai Gastroenterology, Gastrointestinal Surgery, Gastrointestinal Oncology and Gastrointestinal Pathology units, and the genetic counselors in the Samuel Oschin Comprehensive Cancer Institute.