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Teen helps scientists study her own rare disease

 

“Making that idea work required a lot of help from real scientists: Her father, [Sanford Simon], 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. 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.”