Elena Simon is just an average teenage girl, one who enjoys dancing and acting, and plans on attending Harvard in the fall to study computer science. However, most teenage girls did not discover that they had a rare form of liver cancer, fibrolamellar hepatocellular carcinoma, at the age of 12 1. Most girls also do not go on to recover from that cancer and then make important scientific contributions to the research of that particular disease. Elena Simon is clearly not most girls!

fibrolamellar hepatocellular carcinoma

Elena Simon found an important mutation in her own rare liver cancer. Image courtesy of The Independent.

Elena was born into a family of scientists, and so she was naturally curious about her disease. This prompted her to ask questions about fibrolamellar hepatocellular carcinoma, a rare cancer that is not well studied but usually results in a fatal prognosis for most patients, with 32% survival in the 5 years after diagnosis. While she was doing her high school research internship, she had the idea to conduct whole-transcriptome and whole-genome sequencing of the tumors of her disease in order to determine the mutation that causes this rare form of liver cancer. Because mutations can often be caused by age alone, Elena reached out through YouTube to younger patients whose genomes would have less age-related mutations in order to identify the correct fibrolamellar hepatocellular carcinoma-causing mutation.

Her father is a biophysicist at Rockefeller University, and so Elena was able to create a collaboration with people in her father’s lab, her surgeon, and the New York Genome Center in order to conduct this sequencing research. RNA sequencing was analyzed and showed a recurrent mutation in their tissue samples causing a chimeric protein, DNAJB1-PRKACA. Using immunoprecipitation and Western blot analyses, they were able to confirm the expression of this chimeric protein in the tumor tissue. In fact, they found that this was found in 100% of their fibrolamellar hepatocellular carcinoma patient samples. This work was recently published in Science, where Elena was a co-author of the study 2.

Elena’s story is an example of how a passionate person, no matter what age, can drive groundbreaking research. Many patient advocates often contact individual researchers in order to highlight their particular rare disease. Resources such as Assay Depot and Bio, Tech, and Beyond can increase the opportunities available for an individual to pursue their research interests, such as the rare disease fibrolamellar hepatoceullular carcinoma.

 

References

  1. Naggier S. NBC News Online. (April 16 2014). “Teen Makes Genetic Discovery of Her Own Rare Cancer.” http://www.nbcnews.com/health/cancer/teen-makes-genetic-discovery-her-own-rare-cancer-n75991
  2. Honeyman JN, Simon EP et al. (2014). “Detection of a recurrent DNAJB1-PRKACA Chimeric Transcript in fibrolamellar hepatocellular carcinoma.” Science 343: 1010-1014.