The International Center for Fabry Disease (ICFD)
Icahn School of Medicine at Mount Sinai
Department of Genetics and Genomic Sciences
New York, New York
Phone: ; Email: [email protected]
The International Center for Fabry Disease (ICFD) has provided diagnostic and clinical services to identify and
evaluate affected males and heterozygous females with Fabry disease for over 40 years. The diagnostic studies
include α-galactosidase A (α-Gal A) enzyme determinations in plasma and white blood cells and mutation
analysis of the α-galactosidase A (GLA) gene. In addition, the Center offers clinical evaluations, medical
management, genetic counseling, and treatment for patients. The Center has performed diagnostic and clinical
evaluations for over 3,000 patients during the last 40 years, and continues to perform research to improve
diagnostic methods and treatment. The Center’s researchers were the first to purify normal α-Gal A, isolate the α-Gal A
cDNA and GLA gene, and identify the GLA mutations causing Fabry disease. The Center’s researchers also generated the mouse model of
Fabry disease and performed the preclinical studies and subsequent clinical trials that led to the approval of Fabrazyme™, enzyme replacement therapy (ERT), for patients with Fabry disease.
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