At the age of 3, Nicholas Volker of Monona, Wisconsin, had already endured more than 100 surgeries, but was progressively getting sicker. His intestines continued to swell and more abscesses formed, and doctors concluded they were dealing with an unknown cause of disease.
A collaborative team of scientists and physicians, lead by Dr. Alan D. Mayer, assistant professor of Pediatrics at the Medical College, and pediatric gastroenterologist with Children’s Hospital, decided to use genetic sequencing to identify and treat an unknown disease.
“Exhaustive efforts to reach a diagnosis revealed numerous abnormalities in Nick’s immune system, but none pointed to a specific disease,” Dr. Mayer explained. “So we decided the next logical step was to sequence his entire exome.”
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