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Our rare disease team works to develop effective therapies for patients affected by rare disorders, which are defined by the Orphan Drug Act of 1983 as those diseases affecting fewer than 200,000 patients in the United States.

At Pfizer, we are making important strides in our understanding of rare diseases and there is tremendous opportunity for patients driven by recent scientific breakthroughs to enable the discovery and development of new medicines.


The majority of rare diseases are caused by a single gene mutation, and thanks to genome sequencing, we now have clues that lead us in the best direction for potential therapies. This is key for Pfizer as we focus on monogenetic diseases, partly through our gene therapy efforts.

With more than 20 years of experience in rare disease research, treatments approved in 81 countries, and multiple drugs in clinical trials, Pfizer is uniquely positioned to lead advances in rare disease treatment. We are focused on two main areas of research in rare disease: Hematology Diseases and Neuromuscular Diseases.

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