Simon at Rockefeller University (Photo: AP Photo/Zach Veilleux, The Rockefeller University)
When Elana Simon was 12, she was diagnosed with fibrolamellar hepatocellular carcinoma, a very rare form of liver cancer. She underwent surgery, which was successful — but that wasn't the end of her relationship with the disease.
Now 18, Simon is a co-author on a study on the illness that was published today in Science, one of the world's most prestigious scientific journals (in a rare occurrence, her high school is listed as one of her academic affiliations on the paper).
"It's crazy that I've been able to do this," Simon, who lives in New York, told AP.
Her academic interest in the disease began during an internship in grade 10, where she worked with a research team at Mount Sinai School of Medicine in New York studying another kind of cancer. Her job was to hunt through genetic data from eight patients looking for a common mutation, and she wondered whether she could use the same approach to study the cancer she'd survived.
Working with the doctor who'd performed her surgery, Simon set up a lab at Rockefeller University (where her father is a biologist), got in touch with patient groups, and started amassing samples from 15 other patients with the disease (only about 200 people around the world receive a diagnosis each year).
After performing a genetic analysis on all the samples, Simon's team found a characteristic genetic abnormality in all of the tumours tested so far. Interestingly, the mutation occurred only in the tumour, not in the surrounding tissue — suggesting a potential target for future treatments.
Because the disease is so rare, it's difficult for researchers to gather enough data on it. To help address that, Simon set up the Fibrolamellar Registry, an online database where patients can pool their medical records.
She's the second of 19 authors listed on her paper (her surgeon and her father are both listed too), and in the fall, she's planning to study computer science at Harvard.
"Initially I didn't think we'd find anything that could actually help people," she told the Wall Street Journal. "It's awesome that things are coming together and the research is doing well."