The young woman was only in her 20s, but she had cancer in both breasts. Ryan Denu, a medical student who saw her in the clinic, thought she might have inherited genetic mutations known to sharply raise the risk of breast cancer.
Her tests were negative for those mutations, but she did have other genetic defects that cause Nager syndrome, a rare condition marked by abnormalities in how the face, arms, and hands develop. His patient’s case spurred him to learn whether mutations in the SF3B4 gene also led to her cancer, something he could explore as a physician-scientist in training.
He found other young women with both Nager syndrome and cancer, collected tumor samples and skin biopsies from them, and eventually created induced pluripotent stem cells to later grow into organoids. That groundwork allowed him to see how a mutation that makes RNA splicing go wrong — a vital step in translating genes into proteins — can cause problems with development and also predispose people to cancer.
His path to medicine: “I was thinking, how can I make the biggest impact I can during my time here on this earth?”
His route to research: “It’s a creative outlet for me, a way to innovate a way to study things nobody else has ever studied before.”
University of Wisconsin Ph.D. in hand, Denu is nearly an M.D., too. He’s applying to internal medicine and oncology fellowships that include research. His goal is to better understand the biology of a tumor to better match treatment to each individual’s cancer.
“It’s a creative outlet for me, a way to innovate a way to study things nobody else has ever studied before.”
Outside the lab and clinic, he started an indoor youth tennis program across the street from his hospital, intent on erasing any country club stereotype from a sport he loves to play.
He has another love off the court: “I like to brew beer at home for fun.”
— Elizabeth Cooney