Rare Diseases


Focusing on uncommon and under-served medical conditions, our Rare Disease therapy group develops breakthrough therapies for patients who might otherwise have few treatment options.

A Personal Approach

Every part of our Rare Disease therapy group serves small patient populations through personalised care and highly specialised 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. Indeed, our first ten years focused primarily on finding a treatment for a LSD called 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.

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.

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.

Campbell, Australian Pompe Patient.

Last Updated: 12/12/2014
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F: +61 2 8666 3000

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