Teenager Elana Simon helps write study into her own cancer

First, the American teenager survived a rare cancer. Then she wanted to study it, spurring research that helped scientists find a weird gene flaw that might play a role in how the tumour strikes.

At 18, she is young to be listed as an author of a study in the prestigious journal Science, but the industrious high school student's efforts are bringing new attention to a mysterious disease.

"It's crazy that I've been able to do this," said Elana Simon, describing her idea to study the extremely rare form of liver cancer that hits mostly adolescents and young adults.

Making her idea work required a lot of help from real scientists in New York: her father, who runs a cellular biophysics laboratory at Rockefeller University; her surgeon at Memorial Sloan-Kettering Cancer Centre; and gene specialists at the New York Genome Centre. A second survivor of the cancer, who the journal said did not want to be identified, also co-authored the study.

Together, the team reported that they had uncovered an oddity: a break in genetic material that leaves the "head" of one gene fused to the "body" of another. It results in an abnormal protein that forms inside tumours but not in normal liver tissue, suggesting it might fuel cancer growth, the researchers wrote. They have found the evidence in all 15 of the tumours tested so far.

It was a small study, and more research was needed to see what this gene flaw really does, said Sanford Simon, the teenager's father and the study's senior author.

But the project is already encouraging more patients to become involved in scientific research. Scientists at the National Institutes of Health are advising the Simons on how to set up a patient registry, and its Office of Rare Diseases Research has posted on its website a YouTube video in which Elana Simon and a fellow survivor explain why people should get involved.