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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 strived to become a leader in the treatment and education in Gaucher Disease, the first prototype lysosomal storage disease.

Our Core mission is advancing patient care through cutting edge research that allows us to evaluate and monitor Gaucher Disease while offering treatments that best reflect the needs of the individual patient.

Gaucher Disease Center of Excellence

Whether you are new to a diagnosis or seeking management of your disease, we welcome you to contact us. Our center is patient focused. We represent the highest standard of care where research supports our primary goal to provide optimal patient care.

About Our Program

The National Gaucher Disease Treatment Center located at Yale’s Liver and Metabolic Disease Center is nationally recognized as the premier academic center. The National Gaucher Disease Treatment Center was formed in 2001. Over the years it has attracted referrals nationally and internationally. With its standard of excellence, the center has attracted major funding for research from the NIH, The National Gaucher Foundation and Foundations. Our core mission is to match compassionate care with personalized medicine based on cutting edge research.

Our treatment center has cared for hundreds of Gaucher Disease patients and we are deeply committed to patient care.

Make an Appointment

We are located at:

Yale Physicians Building
800 Howard Avenue, 4th Floor
New Haven, CT

To make an appointment, please call 203.785.3412 or 203.785.3197.

We look forward to answering your questions and being a part of your healthcare team.

  • The National Gaucher Disease Treatment Center brings together multidisciplinary expertise to diagnosis and treat Gaucher Disease (Types 1-3). Our comprehensive approach is to diagnosis and evaluate the burden of disease through a series of tests, all conducted at our facility. We are then able to identify the optimal treatment path for each patient.

  • Facing Gaucher Disease can be a very difficult and overwhelming experience for many parents and caregivers. It’s important for you to empower yourself with educational resources so you have as much information and support as possible.