At 18, Elana Simon has beaten cancer and is even a co-author of a study about her disease, which was published Thursday in the journal Science.
Six years ago, Simon was diagnosed with a rare liver cancer, called fibrolameller. Simon’s cancer was caught in time and she had surgery to remove the tumour, according to the Associated Press. But hers was a lucky case. Because the disease only affects about 200 people in the United States each year, it’s not well understood, making it difficult to detect and treat.
So while still in high school, Simon took it upon herself to begin researching the difference between these tumour cells and healthy liver tissues. The teenager got help from her father, Sanford Simon, who runs a laboratory at Rockefeller University and is the study’s senior author, as well as her pediatric surgeon, Michael LaQuaglia of Memorial Sloan Kettering. The New York Genome Center was also involved in the research.
Researchers obtained 15 tumour samples that had been surgically removed from people with fibrolamellar cancer and sequenced their genomes.
One mutation — which was present in all 15 patients — really popped out. It involved a piece of DNA that “had been broken and rejoined, creating a mutated gene that had the potential to wreak havoc in the bodies of individuals with the gene,” according to a media release from Rockefeller University.
Researchers are now trying to understanding how the broken gene causes the tumors by testing how it changes human liver cells in the lab.
The results are encouraging, but this hardly the end of the mystery. According to the Wall Street Journal, La Quaglia says that “finding such a mutation doesn’t mean it definitely causes the cancer and more research needs to be done to establish its role.”
Simon, now cancer-free and finishing up her senior year in high school, plans to attend Harvard in the fall, according to the WSJ.
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