Model student
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A turning point
Soon after Alex started his internship in fall 2007, he and Dr. Cox began considering what his research project would be. But if life is what happens when you’re making other plans, as John Lennon used to say, life—at its most unpleasant—happened.
An avid runner, Alex noticed he was sweating excessively when out for a run and, more disturbingly, could hear his own heart beating too loudly. A series of medical tests revealed a large tumor around his aorta, the major artery leading from the heart. Surgery to remove the tumor was scheduled right away.
Subsequent genetic testing of Alex, as well as three other family members, revealed that they all have a rare, dominant genetic mutation that causes a cancer called familial paraganglioma (FP). This diagnosis means they are likely to develop tumors around the head, neck, heart and abdomen. FP patients must have frequent scans to detect tumors as early as possible, but even then tumors may develop where they are difficult or impossible to remove, or become malignant.
Through Alex’s medical ordeals, Dr. Cox stayed in close contact with him and his family. “Alex was already part of our lab group and we felt connected to him,” Dr. Cox says. “Not surprisingly, they had a lot of questions about the cancer: how is it inherited, and what are the ramifications for the other members of the family? And even though FP is outside of my primary area of research, as a genetics investigator I was able to do a lot of background research in the disease much more easily than a non-scientist.”
After looking through the literature and reviewing the research that had been done on the cancer, Dr. Cox was struck by an important detail: “There were no mouse models available to study familial paraganglioma.”
