Boston Latin School
Sarah Reed and Christopher Lo
Epigenetic marks such as DNA methylation present in gene promoters have been shown to play a functional role in cancer progression. Since methylation chemically modifies individual DNA bases to alter transcription, either the methylation of tumor suppressor gene promoters or the demethylation of proto-oncogene promoters can support tumor cell proliferation and survival. Sequencing DNA to uncover these epigenetic changes will advance our understanding of the role of methylation in cancer and may eventually enable new tools for early cancer diagnosis.
Cell-free DNA—DNA that has been shed by cells into the bloodstream—represents a mixture of many cell types, including cancer cells from patients with cancer. This provides an alternative to invasive tissue biopsies for genetic testing, as a patient’s tumor DNA could potentially be detected and profiled with a simple blood draw. Ian examined methylation patterns in the promoter regions of several samples of cell-free DNA. The goal of Ian’s project was to characterize methylation patterns of healthy individuals. Eventually, Ian’s work will be used as a point of reference to compare against when studying individuals with cancer. Ian analyzed a large amount of sequencing data from eight healthy individuals and identified promoters of certain genes that were unmethylated in all eight individuals. If the same region were methylated in a patient with cancer, it is possible that the methylation signal is reflective of a cancer-specific change and is coming from the tumor.
Ian decided to apply to BSSP because he wanted to be challenged not by problems printed in textbooks, but by issues that concerned the real world. “Before this program, the thought of researching like a scientist was surreal to me. My experience at Broad gave me that confidence that I would need to move on to the next chapter of my scientific journey.” Ian was impressed that his colleagues at the Broad were always trying to learn. "The sheer drive for knowledge, in my opinion, is the best part about being at the Broad."