Catherine Elizabeth Keegan, MD, PhD

Dr. Keegan is a physician-scientist boarded in Medical Genetics. She completed her Medical Genetics training at University of Michigan in 2001 and has been a faculty member in the Department of Pediatrics since 2002. She currently serves as Director of the Division of Genetics, Metabolism, and Genomic Medicine in the Department of Pediatrics. She has served as the Program Director for the Medical Genetics and Genomics Residency Program since 2017. She is Co-Director of the Michigan Medicine NORD Center of Excellence and Medical Director of the Michigan Medical Genetics Laboratory. As a practicing Pediatric Medical Geneticist, she cares for patients with a wide variety of known or suspected genetic disorders and has an interest in undiagnosed rare genetic diseases. She has significant clinical expertise in genetic evaluation of patients with Differences of Sex Development (DSDs). She also participates in a multidisciplinary clinic for patients with Turner syndrome.

In her spare time, she likes to travel and spend time at her cottage in Northern Michigan.

Rare undiagnosed genetic diseases, neurodevelopmental disorders, structural birth defects, differences of sex development (DSD), and Turner syndrome

University of Michigan Health participates with most health insurance plans.

Dr. Keegan's current research interests include diagnosis and characterization of rare human genetic diseases. Disorders of particular interest include KDM5C-related neurodevelopmental disorder, differences of sex development (DSD), and structural birth defects affecting the lower part of the body. She is also interested in models for implementation of novel therapeutics for rare diseases in the clinical setting, including gene therapy., Caudal development, Telomere dysfunction and genomic instability.