Fabry Disease Resource Center
Health ConditionsGenetic DiseasesFabry Disease

Fabry Disease

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Fabry disease is an inherited genetic disorder in which you don’t have enough of an enzyme that’s needed to break down a particular type of lipid (fatty substance), known as globotriaosylceramide (Gb3), in the body’s cells. This leads to a buildup of the fatty substance in cells throughout the body, which can cause a number of different symptoms and complications.

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Joy Tanaka, PhD

Medical Reviewer

Joy Tanaka, PhD, specializes in clinical molecular genetics. She is dedicated to integrating excellent clinical care with cutting-edge medical research for patients with rare and undiagnosed disorders, and is focused on pursuing questions at the interface between genetics and human disease with the goal of developing novel therapies and treatments.

Dr. Tanaka received her PhD from Yale University School of Medicine, where she was a Howard Hughes Medical Institute Medical Research Scholar and recipient of the George Robert Pfeiffer Fellowship for Translational Medicine. She completed her clinical fellowship in cytogenetics and clinical molecular genetics at Columbia University and New York Presbyterian Hospital, and is currently associate clinical laboratory director at Rady Children's Hospital Institute for Genomic Medicine in San Diego, California.

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Resources
  1. Fabry Disease. Genetic and Rare Diseases Information Center. February 2025.