Rare Diseases


Focusing on uncommon and underserved medical conditions, our Rare Disease business unit develops breakthrough therapies for patients who might otherwise have few or no treatment options.

Rare Diseases

Every part of our Rare Disease business unit serves small patient populations through personalized care and highly specialized products. It currently focuses on these disease areas:

Lysosomal Storage Disorders

Lysosomal Storage Disorders (LSDs) - a group of rare genetic conditions caused by enzyme deficiencies - are a cornerstone of Genzyme's business, and the medical area for which we are best known.Our breakthrough work in genetic engineering and recombinant DNA manufacturing has made possible the large-scale production of enzyme replacement therapies for several previously untreatable LSDs, including Gaucher disease, Fabry disease, MPS I, and Pompe disease.

A Legacy of Leadership

Our first ten years focused primarily on finding a treatment for Gaucher disease. In 1984 we pioneered the first enzyme replacement therapy to treat Gaucher disease, which established our leadership in this field.

Our First Patient

In 1983, three-year-old Brian Berman was the first Gaucher patient to be successfully treated with enzyme replacement therapy. His remarkable recovery inspired Genzyme to continue developing the therapy. Today, he is a father of four children and president of the National Gaucher Foundation in the United States.

All our LSD products were the first – and in some cases are still the only – treatment available to these patients.

Moving forward, we continue to innovate on behalf of the LSD community. We’re developing drugs for LSDs that currently have no treatment options, and we’re applying our genetic expertise to new forms of treatment delivery, such as oral drugs, that are more convenient for patients than intravenous enzyme infusions and more practical in developing markets with a limited medical infrastructure. 

Arina from St. Petersburg was Genzyme's first Gaucher disease patient in Russia.

Thyroid Cancer

We have also applied the expertise and personalized approach we built through our work on LSDs to improve the lives of individuals living with other disorders, such as thyroid cancer.

Our thyroid cancer portfolio includes a product that allows patients to avoid hypothyroidism during their thyroid remnant ablation treatment with radioiodine and following annual tests when they must go off their thyroid hormone therapy. 

Last Updated: 11/24/2015

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