Gaucher Disease Treatment Center

The Mount Sinai Comprehensive Gaucher Disease Treatment Center represents the single largest clinic in the world devoted to the diagnosis and treatment of Gaucher disease. 

In addition, the Center conducts research involving basic and clinical-related studies, including a variety of molecular techniques to uncover the basis of clinical heterogeneity, and clinical investigations to elucidate the natural history of Gaucher disease and how its course may be modified with treatment using enzyme replacement. As a program of our Jewish Genetics Disease Center, the largest center of for Jewish genetic diseases in the world, the Gaucher Disease Center’s comprehensive clinical and research program offers complete evaluation and treatment of Gaucher disease. An expert team of subspecialists in clinical genetics, genetic counseling, radiology, orthopedics, pain management, hematology, and obstetrics/gynecology is experienced in the latest techniques for evaluation, diagnosis, and individualized treatment of adults and children. 

History of Gaucher Diseases

Phillipe Gaucher, a French physician, first described the clinical disorder that now bears his name in 1882. His astute medical thesis describing a 32-year-old woman with a remarkably enlarged spleen (splenomegaly) and the hallmark large, peculiar cells present in her spleen. Dr. Gaucher’s thesis stimulated interest in the medical community. The next major milestone occurred in 1913 when Nathan Brill, a Mount Sinai pathologist gave the condition its eponym, Gaucher disease, and introduced the concept of the familial nature of the disorder. Dr. Brill was also the first pathologist to diagnose a case while the patient was still alive. Along with his Mount Sinai colleagues, Dr. Frederick Mandelbaum and Dr. Emanuel Libman, Nathan Brill described the anatomic and morphologic pathology of the disease. Throughout the century following its discovery, the scientific and medical communities have continued to advance understanding of the clinical and pathologic findings, metabolic disorder, familial transmission, and genetic defect of the disease.

Based on these studies, diagnosis and treatment of Gaucher disease are possible and represent a cornerstone in the era of molecular medicine. 

Research Projects

Researchers are currently directing their efforts toward the development of improved and novel treatments. 

Enzyme therapy. Studies are ongoing to determine the long-term safety and efficacy of enzyme therapy, indications for the treatment of Gaucher disease, as our team explores the value of treating asymptomatic patients. 

Bone marrow transplantation. Another area in which we are conducting studies is the evaluation of bone marrow transplantation for the treatment of Gaucher disease. Although bone marrow transplantation can cure Gaucher disease, there is a high morbidity and mortality rate associated with this procedure. Our specialists consider only severely affected patients who have histocompatible sibling donors appropriate for transplantation. 

Gene therapy. In searching for a cure for Gaucher disease, we are using any of several techniques. A normal gene for acid b-glucosidase can be inserted in to the somatic cells of Gaucher disease patients to correct the inherited enzyme defect. The basic strategy involves the retrieval of stem cells from the patient through either bone marrow harvesting or extraction from peripheral blood, and the subsequent introduction of the normal gene using a retroviral vector. Stem cells are blood cells that propagate continuously; thus, once the deficiency corrects in these cells, they become an internal and continual source of the enzyme.