Fumihiko Urano, MD, PhD

Samuel E. Schechter Professor of Medicine, Professor of Medicine and of Pathology and Immunology


Following his clinical and research training in pathology, oncology, and medical genetics, Dr. Urano studied endoplasmic reticulum biology at the New York University School of Medicine under the mentorship David Ron, MD (currently Professor at the University of Cambridge).

Clinical Expertise

Genetic testing and counseling for patients with monogenic diabetes, syndromic diabetes, retinal dystrophy, and other diseases associated with endoplasmic reticulum dysfunction, especially Wolfram syndrome and Wolfram-spectrum disorder (WFS1-related disorders a.k.a. Wolfram-like disease).

Research Expertise

Wolfram Syndrome and Endoplasmic Reticulum Diseases

Dr. Urano is a driving force in the study of Wolfram syndrome, Wolfram-spectrum disorder, and Endoplasmic Reticulum Diseases. These are genetic diseases that can cause insulin-dependent diabetes, retinal dystrophy, hearing impairment, and early-onset neurodegeneration. Dr. Urano is currently Samuel E. Schechter Professor of Medicine and Medical Staff at Washington University Medical Center. As the Director of the Wolfram Syndrome International Registry and Clinical Study (https://wolframsyndrome.dom.wustl.edu/), Dr. Urano has been leading the clinical, translational, and interventional studies of Wolfram syndrome and Wolfram-spectrum disorder supported by the National Institutes of Health (NIH), Wolfram patient organizations in the world, and the Institute of Clinical and Translational Sciences at Washington University. Dr. Urano’s collaboration with colleagues at the medical center and around the world has allowed him to begin a clinical trial dedicated to the treatment of this disease.

Regenerative and Gene Therapy

Dr. Urano is currently developing regenerative and gene therapy for diabetes, retinal dystrophy, neurodegeneration, and Wolfram syndrome. Dr. Urano hopes to treat his patients with such therapy in his endocrinology genetics clinic in the future.