US teen helps scientists study her own rare and life-threatening disease
By Lauran Neergaard ,AP
March 1, 2014, 12:01 am TWN
WASHINGTON -- First the American teenager survived a rare cancer. Then she wanted to study it, spurring a study that helped scientists find a weird gene flaw that might play a role in how the tumor strikes.
Age 18 is pretty 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 this 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 mostly hits adolescents and young adults.
Making that idea work required a lot of help from real scientists: Her father, who runs a cellular biophysics lab at the Rockefeller University; her surgeon at Memorial Sloan-Kettering Cancer Center; and gene specialists at the New York Genome Center. A second survivor of this cancer, who the journal said didn't want to be identified, also co-authored the study.
Together, the team reported Thursday that they uncovered an oddity: A break in genetic material that left the “head” of one gene fused to the “body” of another. That results in an abnormal protein that forms inside the tumors but not in normal liver tissue, suggesting it might fuel cancer growth, the researchers wrote. They've found the evidence in all 15 of the tumors tested so far.
It's a small study, and more research is needed to see what this gene flaw really does, cautioned Dr. Sanford Simon, the teen's father and the study's senior author.