business units

Rare Diseases

Focusing on uncommon and underserved medical conditions, our Rare Disease business unit develops breakthrough therapies for patients who might otherwise have few treatment options.

Key Facts
Business Unit Head:

Richard Peters, M.D., Ph.D.

Products Marketed (Worldwide):

Aldurazyme®, Cerdelga®, Cerezyme®, Cholestagel®, Elaprase®, Fabrazyme®, Kynamro®, Lumizyme®, Myozyme®, Thyrogen®

Built up over the years through both in-house development and strategic acquisitions and partnerships, our Rare Disease business unit is currently focused on three medical areas:

  • Genetic Diseases
  • Endocrinology
  • Cardiovascular Disease

And we continue to branch out beyond diseases traditionally defined as "genetic," to research targeted, gene-based applications for a variety of disorders. For example, our industry-leading gene therapy work explores how gene manipulation can make conventional drugs for Parkinson's disease more effective as well as prevent vision loss in patients with age-related macular degeneration.

Every part of our Rare Disease business unit serves small patient populations through personalized care and highly specialized products.

Genetic Diseases

Pioneering Solutions to 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 most well known. Indeed, our first ten years focused primarily on finding a treatment for an 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 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:
  • Cerezyme was launched in 1994 for treating Type 1 Gaucher disease in children and adults.
  • Fabrazyme to treat Fabry disease launched in Europe in 2001 and soon expanded to the U.S. and other regions.
  • Aldurazyme, for patients with the Hurler and Hurler-Scheie forms of Mucopolysaccharidosis I (MPS I), came to market in 2003.
  • In 2006 Myozyme was approved in the U.S. to treat infantile Pompe disease and all Pompe patients in Europe and other regions.
  • Lumizyme was approved in the U.S. in 2009 specifically to treat late-onset Pompe disease, and in 2014 became available to Pompe patients of all ages.

Our commitment to this patient community has also led us to distribute Elaprase, an enzyme replacement therapy for Hunter syndrome manufactured by Shire Human Genetic Therapies, in the Asia-Pacific region.

All our LSD products were the first – and in some cases are still the only – treatment available to these patients. We also continue to address unmet needs among these communities. For example, we developed Cerdelga, the only first-line oral treatment for Gaucher disease type 1, as an alternative to regular intravenous infusions of enzyme replacement therapy for certain adult patients with this disease.

Orphan Drugs

"Orphan diseases" are rare conditions affecting very small numbers of patients – defined by the U.S. Orphan Disease Act as fewer than 200,000 people in the U.S. The LSDs that Genzyme focuses on each affect only a few thousand people worldwide. Treatments for such conditions – called "orphan drugs" – are subject to special regulatory rules that help companies develop and get them to patients faster.
Next-Generation Treatments

Moving forward, LSDs continue to be a focus at Genzyme – we're developing a drug to treat Niemann-Pick disease as well as a more potent therapy for Pompe disease. And we're applying our genetic expertise to new forms of treatment delivery that are more convenient for patients than intravenous enzyme infusions – and more practical in developing markets with a limited medical infrastructure. We recently launched an oral therapy for Gaucher disease type 1, and our small molecule oral drug for Fabry disease has shown great promise in clinical development.

We recently entered into a partnership with Alnylam Pharmaceuticals to co-develop and co-commercialize several potential treatments for rare genetic diseases. These products are a new class of therapeutics based on RNA interference. RNAi, also known as “gene silencing,” works by inhibiting the production of proteins that cause or contribute to the targeted disease. Alnylam’s expertise in this technology platform, combined with our strong clinical development and commercial organizations and established global infrastructure in rare diseases, will enable us to bring these products to patients as effectively as possible.


Anchoring the endocrinology portion of Genzyme's business is our market-leading product Thyrogen, approved in the U.S. in 1998. This genetically engineered version of thyroid-stimulating hormone (TSH) is used as a supporting therapy in the diagnosis, treatment, and ongoing monitoring of well-differentiated thyroid cancer.  We also have a new TSH formulation that's entering phase 3 trials as a potential treatment for multinodular goiter.

We have also entered into a partnership with Veracyte to increase access to the Afirma® Thyroid FNA Analysis, an innovative and novel approach to determine whether or not patients have thyroid cancer. The traditional approach for ruling out thyroid cancer produces results that are notoriously challenging to interpret, and many patients undergo a surgical procedure called a thyroid resection because their results were indeterminate. The Afirma Thyroid FNA Analysis is a personalized analysis of a patient’s genes that can obtain a clearer diagnosis and thus help patients with benign nodules avoid unnecessary surgery and a lifetime of thyroid hormone replacement therapy.

Cardiovascular Disease

We've applied the genetic expertise we built through our work on LSDs to research other inherited disorders, such as familial hypercholesterolemia, a genetic and potentially life-threatening form of severely high cholesterol that often doesn't respond to traditional treatments. In partnership with Isis Pharmaceuticals, we developed KynamroTM (mipomersen sodium), a lipid-lowering injection for patients with homozygous familial hypercholesterolemia (HoFH). HoFH is a rare disease that occurs in approximately one in one million individuals. For those with HoFH, heart attacks and death often occur before age 30.

For more information about familial hypercholesterolemia, visit our FH Journeys website.

Supporting Services

Because of the rarity of most of the diseases Genzyme treats, the patient and health care communities are small – often with limited resources. To support them, we are committed to providing services that go hand-in-hand with our medical solutions:

  • We provide many U.S. patients with case managers to help navigate the intricacies of insurance, and we have numerous programs worldwide to ensure patient access to critical treatment
  • By establishing registries – large, often multinational databases to which physicians contribute clinical data on patients – for several LSDs, we help pool knowledge and improve understanding of rare diseases that would be otherwise difficult to study
  • We develop a wide variety of educational materials, both in print and online, for patients and their families as well as health care professionals
  • Our Patient Advocacy group is deeply involved in the patient communities, working to understand and advocate for their needs
  • Our Medical Information team is dedicated to answering questions about the diseases we treat, our products, and other genetic issues
  • Around the world, we partner with local patient organizations to support and advocate for the needs of their patient communities
Our Inspiration
Last Updated: 5/13/2015
Contact Us
Genzyme Corporation

500 Kendall Street
Cambridge, MA 02142
T: 617-252-7500
F: 617-252-7600

Send Email
Our Products
An Innovative Portfolio

See our list of products, along with links to U.S. prescribing information and product websites.

Newborn Screening for Rare Diseases

Early diagnosis saves and improves lives of individuals with progressive diseases. For 15 years, Genzyme and our partners have been working to make newborn screening for rare diseases a reality.

Genzyme Support Services
U.S. Rare Genetic Diseases

As part of our commitment to the rare genetic disease community, we offer personalized and confidential online support services to people living in the U.S. who are affected by Gaucher disease, Fabry disease, Pompe disease, or MPS I disease.