National Gaucher Disease Treatment 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 Locations
Gaucher Center Calendar
Yale Only Pranoti Mandrekar, PhD
Yale Only Dustin Scheinost, PhD, BS
Yale Only Nicolas Chong Lugon - Young-Ri Shim
Past Events
Yale Only Jeremy Puthumana, MD - Yujie Bao
Yale Only Louise Wang, MD, MSCE
Yale Only Jenn Batisti, MD