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Rare Diseases

At Pfizer Rare Disease, we focus on smaller patient populations, but aspire for big impact. We strive to fundamentally transform what it means to live with a rare disease.

We merge pioneering science with a deep understanding of the underlying disease pathology to deliver innovative treatments. With over three decades of experience in rare disease, our broad global rare disease portfolio aims to address the unmet medical needs across a number of therapeutic areas, including hematology, neurology, endocrinology, cardiology, and inherited metabolic diseases.

Pfizer is working to pioneer gene therapy breakthroughs that change patients' lives. We hope to unlock the promise of gene therapy for patients worldwide living with rare genetic diseases for whom the current standard of care falls short. If successful, imagine the possibilities.

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