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Rare Disease

There are an estimated 10,000 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 having identified genetic origins.We believe gene therapy has the potential to provide meaningful improvements to 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 specialised, 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.

NEWSGene Therapies: The transformative potential of precision medicine

Join us as we discuss the future potential of these novel treatments.

NEWSPfizer UK launch blueprint for the UK adoption of cell and gene therapies 

From Promise to Reality: A blueprint for building a mission-led partnership approach to make the UK a world-leader in the adoption of gene therapies.

NEWSDelivering a step forward for rare disease patients

In episode 3 of our podcast, we explore why healthcare systems need to keep pace with scientific advancements.

References

  1. Global Genes. Rare Disease Facts. Last Accessed May 2024.
  2. Rare Disease UK. What is a rare disease Last Accessed May 2024.
PP-UNP-GBR-8872 / May 2024
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