Catherine Keegan

Catherine Keegan is a Professor in the Department of Pediatrics - Genetics at the University of Michigan Medical School, serving as Director of the Division of Genetics, Metabolism, and Genomic Medicine. She holds affiliations with the Rogel Cancer Center, Center for Cell Plasticity and Organ Design, and the Human Genetics department. Her roles include Program Director for the Medical Genetics and Genomics Residency Program and Medical Director of the Michigan Medical Genetics Laboratory.

Dr. Keegan’s education includes a Pediatrics Residency at Boston Children’s Hospital (1996–1999) and Medical Genetics Residency at the University of Michigan (1999–2001), followed by a Postdoctoral Research Fellowship in Medical Genetics (2001–2002). Her research focuses on rare genetic diseases, particularly Disorders of Sex Development (DSDs), structural birth defects, and gene therapy implementation. She leads translational research efforts and collaborates on projects like the Disorders of Sex Development (DSD) Translational Research Network.

Her research publications span genetic diagnostics, molecular mechanisms of birth defects, and clinical applications of genetic testing. Notable grants include NIH-funded studies on telomere biology, shelterin complex functions, and translational research in DSD. Dr. Keegan also contributes to medical education, mentoring trainees in clinical and laboratory settings.

She has secured over 20 grants since 2002, including funding for rare disease therapeutics and newborn screening outcomes. Her work emphasizes interdisciplinary care for patients with genetic disorders like Turner syndrome and cloacal exstrophy.