In my genes: how my terminal illness became a career

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We often think that our genes are a consistent, never-changing part of our biological makeup. While the basic instructions in our DNA stay consistent, the way the instructions are read can change. I learned of this dynamic when I was in a research trial for a genetic modulator for the disease I’ve had since birth, Cystic Fibrosis. During this research trial, I discovered the complexity and dynamic interactions of epigenetics: how your environment changes the way your DNA is read. How do these changes occur and how can they affect us? Epigenetic modifications occur in response to lifestyle choices by changing the compaction of DNA, making it looser, easier to read, or tighter, harder to read. These changes in which genes are read are known to contribute to human disease, such as cancer. 

While I was entering my senior year of high school, my mother passed due to cancer. Her fight against the illness, the strength that she found during her fight, and my time during my own clinical trial led me to search for control and further my understanding of epigenetics and its contributions to disease. This led me to pursue genetic research during my undergraduate degree, and to today, as PhD student.

How do we begin to address the question of epigenetics? By using a well-known, adorable, fly! Drosophila melanogaster, the common fruit fly, has been a tool for research for over a century. It has served in many of the most influential studies into epigenetics. To understand epigenetics, my research is focused on a single epigenetic reader protein, Br140, which can integrate information from multiple epigenetic modifications, determining which genes are read.

The role of reader proteins is not well understood; however, we have seen that Br140 has diverse roles in cancer, dependent heavily on tumor type, background, and environment. It is likely that epigenetic modifications and reader proteins are altered in cancers, causing errors that can both drive cancer progression and limit it.

Br140 has also been linked to a disorder that causes delayed development of the brain, leading to a wide variety of symptoms in children. Many of the mutations in Br140 that have been associated with this disorder show large pieces of Br140 missing, meaning that Br140 would not be able to detect epigenetic modifications, which could likely lead to disease.

Many questions remain about epigenetic modifications and the ability of proteins to read them, particularly, how do mutations in Br140 lead to cancer? This research will allow me to begin answering these questions and pursue a passion that I have felt was in my genetic makeup. Being able to contribute to the scientific community that contributed so much to my life is fantastic. I began this passion at such a young age, and I hope to encourage others to pursue their passions, especially those they’ve had their entire lives.