A teen cancer survivor helped scientists make a huge breakthrough in research involving her own extremely rare disease.
At 12 years old, Elana Simon was diagnosed with Fibrolamellar Hepatocellular Carcinoma. Currently, the only treatment that has any positive effect on this disease is surgery.
The now 18-year-old, along with her father Dr. Sanford Simon, who himself runs a cellular biophysics lab at New York’s Rockefeller University, Dr. Michael LaQuaglia, surgeon at Sloan-Kettering Cancer Center, a team of gene specialists, and another anonymous survivor of the disease, all co-authored the study that made a breakthrough in the fight against this rare cancer.
“The team reported their breakthrough Thursday in the journal Science, saying they'd found a break in genetic material that left the "head" of one gene fused to the "body" of another,” reports the Parent Herald. “The result was an irregular protein formation inside the tumor but not in normal liver tissue, possibly leading to cancer growth.”
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The study is extremely small, as only 15 tumors have been tested, but the abnormality has been found in all of them. Currently, the National Institutes of Health is helping Simon and her team find more participants for the study. On average, only 200 people a year are diagnosed with Fibrolamellar Hepatocellular Carcinoma, and most are adolescents or young adults.