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Rare Disease:
Pioneering Breakthroughs

While referred to as “rare” due to the smaller size of individual patient populations,
rare diseases are collectively common and their burden on society is staggering.
We aspire to be the world’s leading innovator in rare disease
by pioneering science that has a profound impact on the lives of underserved patient populations.

HomeScienceAreas of FocusRare Disease

There are over 7,000 known rare diseases that affect approximately 400 million people worldwide. 80% of these diseases have genetic origins and 50% affect children. Collectively, people living with a rare disease represent one of the largest underserved patient communities in the world, with only 5% of known rare diseases having one or more approved treatments.

At Pfizer, we believe that people living with a rare disease, along with the untold number of family members and caregivers who support them, deserve more. For more than thirty years, we have provided critical treatment options for patients with rare diseases. Our current portfolio spans four therapeutic areas, including 1) rare hematology, 2) rare endocrine/metabolic, 3) rare neurology and 4) rare cardiology. Now, we’re leading the way in an effort to deliver a new generation of breakthrough treatments across several modalities – small molecule, large molecule/monoclonal antibodies (mAbs), gene therapies and even devices – to potentially unlock the promise of science for the millions with rare diseases for whom the current standard of care falls short. Our deep pipeline has more than 10 investigational medicines in clinical development, with more than five new molecular entities and three gene therapy programs in Phase 3. And we have the end-to-end capabilities to not only discover and develop life-changing therapies, but, if successfully developed, deliver them to patients throughout the world.


The science of optimism

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Preventing the spread of infections

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Anti Infectives

Combatting an evolving risk

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Inflammation & Immunology

Treatment at the molecular level

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Rare Disease

Smaller populations but big impact 

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