Rare Disease

There are an estimated 7,000 rare diseases in the world today and counting.1 While these diseases may be individually rare they are collectively common, affecting approximately 3.5 million people in the UK alone.2 So if you don’t already know someone affected directly, you probably don’t need to speak to too many people before you will.


Over the past decade scientific advances have increased our understanding of rare diseases and their underlying causes, enabling the development of treatment options. But today, only 5% of rare diseases have an available treatment, this gap in care has spurred a sense of urgency within Pfizer Rare Disease - to find new, potentially life-changing approaches.1

After rigorous review of unmet patient need, the science, and viability of the rare disease space we’re focused on the following areas; Haematology, Neurology, Amyloidosis, Pulmonology, Endocrinology and Nephrology.  A key focus is advancing our gene therapy capabilities, with 4 out of 5 rare diseases have identified genetic origins.1 We believe gene therapy has the potential to provide meaningful improvements in the lives of millions of people living with rare diseases, and we pride ourselves on being a leader in this space. We're investigating highly specialized, potentially one-time gene therapy treatments, using custom-made adeno-associated virus (AAV) vectors to deliver treatments to targeted cells.

With rare diseases, patients are the true experts and we listen to, learn from, and work in close collaboration with patients at every stage - from R&D to treatment delivery. Every strategy, every decision is made with the patient in mind.



  1. Global Genes. Rare Disease Facts Accessed Nov 2021.
  2. Rare Disease UK. What is a rare disease Accessed Nov 2021.