Teen Makes Leap in Study of Own Rare Disease
Elana Simon co-authors new study on fibrolamellar hepatocellular carcinoma
By Arden Dier, Newser Staff
Posted Feb 28, 2014 8:53 AM CST
Elana Simon, 18, of New York, pictured in a laboratory at The Rockefeller University in New York on Tuesday, Feb. 25, 2014.   (AP Photo/Zach Veilleux, The Rockefeller University)

(Newser) – At 18, Elana Simon is already the co-author of a study in the renowned journal Science. The subject? Her own rare liver cancer, which she was diagnosed with at age 12. Together with scientists, another survivor of the disease, her surgeon, and her dad, who runs a cellular biophysics lab, Simon was able to discover what the AP describes as an "oddity" in fibrolamellar hepatocellular carcinoma, which mostly hits kids and young adults: an abnormal protein inside the tumors, but not in healthy liver tissue, that may fuel cancer growth. Their analysis of cancerous tissue from 15 patients found every single one had the gene mutation that caused the protein.

While more research is needed, the New Yorker says the study suggests "a precise diagnostic for fibrolamellar cancer," a cancer so rare only about 200 people are diagnosed worldwide each year. Surgery is the only effective treatment for the cancer—which Simon herself underwent—but she learned there was no registry for affected tissue samples that could be collectively studied while working at a lab during a high school internship. With her surgeon's help, she took the initiative to begin collecting those samples, and has created a database for patients to share their data. "It's crazy that I've been able to do this," says the New York City resident, whose next big endeavor will be studying computer science at Harvard in the fall.

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Mar 2, 2014 10:53 AM CST
This girl is what the world needs...not garbage like the Boston Marathon bomber dude. An inspiration for all young adults.
Catherine Nichols Pogorzelski
Feb 28, 2014 10:02 PM CST
you GO GIRL! I have also found that my own condition (Systemic sclerosis/fibrosis of bowel/carotid stenosis/yellow in sclera of eye, focal dermal fibrosis with increased mucin and GADOLINIUM in dermal biopsy) caused from GADOLINIUM, so STEER clear of any MRI contrast, I have high amounts of this drug in me a full 6 years, yes YEARS, after my last mri with contrast thanks to BAYER & GE I am poisoned for LIFE! and now have developed Thyroid cancer and elongated Styloids (Eagle's syndrome) as well! wishing you all the luck and health in the world! I had 7 MRI's with contrast ebcuae doctros are NOT allowed to diagnose nor treat CHRONIC LYME, watch out walking in the woods! a lousy $5 antibiotic at the approriate time could have saved me and BCBS almost $1/2 million! kind of ironic huh?!
Feb 28, 2014 9:54 PM CST
Hang in there, honey. Such an amazing combo of brains and beauty would be a loss the world could ill-afford...