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Rare disease: pioneering breakthroughs

Rare diseases including those of genetic origin, are life threatening of chronically debilitating diseases1. 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 staggering2.

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 treatments2.

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 more2. For more than thirty years, we have provided critical treatment options for patients with rare diseases. Our current portfolio spans four therapeutic areas, including

  • Rare haematology

  • Rare endocrine/ metabolic

  • Rare neurology

  • Rare cardiology

Now, we are leading the way 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 short2.

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.

We also 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. Imagine the possibilities.

1 Malaysian Rare Disorders Society (MRDS). About MRDS. Rare Disorders. Last accessed: 2 April 2022. Retrieved from:

2 Pfizer website. Science. Areas of focus. Rare Disease. Last accessed: 2 April 2022. Retrieved from:

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