Research Abstract

I am dedicated to a career as a physician-scientist in the emerging fields of clinical computational cancer genomics and precision oncology. My research focuses on utilizing various computational approaches to identify novel inherited genomic predictors of cancer risk, response to therapy, and risk of disease progression. As a clinical cancer geneticist and a computational biologist, I use my expertise in clinical genetics, molecular genomics, biostatistics, bioinformatics, and computational methods to explore clinically-focused questions using genomic, transcriptomic, and methylation data of cancer patients. Towards that end, I built a novel germline computational and pathogenicity enrichment analysis framework that was successfully used to identify novel germline predictors of disease progression and failure of therapy in metastatic prostate cancer patients (Pritchard et al. NEJM 2016), which has since informed the NCCN recommendations for germline genetic testing in this patient population. I have since led the germline genomics program in the Clinical Computational Oncology Laboratory at Dana-Farber Cancer Institute to expand the utility of germline genomic testing in cancer patients by leveraging state-of-the-art computational approaches to study the missing heritability of rare and common cancers. This effort has resulted in identifying two novel colorectal cancer (CRC) predisposition genes (ATM and PALB2), explaining the CRC risk in 1.2% of all unselected and early-onset CRC patients and expanding the diagnostic yield of germline genetic testing by 20% (AlDubayan et al. AJHG 2018). In addition, I led an international team of investigators to identify the first Mendelian germline predisposition gene in testicular germ cell tumors, CHEK2, with potentially immediate clinical and mechanistic implications (AlDubayan et al. JAMA Oncology 2019). Overall, I am a physician-scientist active in clinical and translational computational cancer genomics research through my effort as a clinical cancer geneticist and a computational biologist at Dana-Farber Cancer Institute, Brigham and women's Hospital, Harvard Medical School, and the Broad Institute of MIT and Harvard.