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National Gaucher Disease Treatment Center

Yale Lysosomal Disease Center

Welcome to the Yale School of Medicine Lysosomal Disease Center website. For more than a decade, we have striven towards excellence in clinical care, research and education in Gaucher disease, the prototype lysosomal storage disease.

Our Core mission is advancing patient care through cutting edge clinical translational research to enhance predictive evaluation and monitoring while offering a wide repertoire of therapies.

Clinical & Research Programs

We currently offer comprehensive clinical and research programs in Gaucher disease that include clinical trials, research utilizing disease Registries, mechanism of bone disease, whole genome analysis, biomarker discovery, multiple myeloma, liver cancers, Parkinson’s disease and authentic mouse models of Gaucher disease. We have a national and international referral base arising from our well-recognized expertise in managing the most complex and challenging patients with Gaucher disease.

A selection of our publications highlight our contributions in these diverse areas.

Clinic Location

  • Yale Physicians Building

    800 Howard Avenue, 4th Floor,
    New Haven, CT 06519
For appointments please call:
203.785.3412 or 203.785.3197