A Distinctive Diagnostic Partnership in Pediatrics

When Dr. Nicola Longo, professor of Pediatrics at the University of Utah, encounters a child with an undiagnosed syndrome, he has a unique resource: Dr. Marzia Pasquali, professor of pathology and section chief of Biochemical Genetics at ARUP Laboratories. Their connection extends back to high school in Parma, Italy, and grew through years of medical and scientific training, marriage, and clinical practice. In our discussion, they describe their combined life’s work to solve diagnostic mysteries and develop diagnostic tools to enable long, healthy, and productive lives in children who might otherwise face neurologic decline and early death.