Gene Therapy for Rare Disease


Gene Therapy: Addressing the Root Causes of Rare Diseases

Gene therapy is a targeted, specialized treatment that inserts the corrected gene into an individual’s cells. Unlike treatments that aim to stabilize the disease, or prevent it from getting worse, or that alleviate its symptoms, gene therapy gets to the heart of the genetic mutations that cause most rare diseases. This type of treatment has already shown great promise in treating some rare diseases and has become an important focus of Pfizer’s rare disease research.

On this page, you will find some general information on gene therapy and links to useful Pfizer resources.

Disease Education Information

What is Gene Therapy?

Gene therapy involves introducing genetic material deoxyribonucleic acid or ribonucleic acid (DNA or RNA) into the body as a treatment for disease. Often, this involves delivering a corrected copy of the gene to a patient’s cells to replace the defective one or modulating the expression of a patient’s genes, which could correct the disease. The field has changed significantly with the discovery of novel AAV vectors that are used to deliver genetic material to the cells. Adeno-assisted virus (AAV) vectors are small viruses that can carry genes to specific sites on a host cell. They show promise because, so far, they have not been shown to damage cells or to have any additional, permanent impact on their genomes, beyond delivering the gene. Clinical trials in gene therapy are showing potential for long-lasting treatment of diseases that cannot be addressed with current medicines.

Pfizer is committed to leading this technology by bringing together the expertise in AAV vector design and development with partnerships, in-house knowledge of disease biology, and manufacturing capabilities. Our current efforts include:

  • Collaborations with Spark Therapeutics Inc. on gene therapy for hemophilia and with 4D Molecular Therapeutics on gene therapy for cardiovascular diseases
  • Establishment of the Genetics Medicines Institute at Pfizer, led by Dr Michael Linden

These efforts establish a foundation upon which we intend to continue building our gene therapy programs and capabilities. With Pfizer’s commitment to rare monogenic diseases, we see gene therapy as a key pillar of our Rare Disease strategy and also envision its application to select central nervous system (CNS) and pulmonary diseases.

Pfizer Rare Disease Resources for Gene Therapy

Pfizer is interested in considering partnerships with innovative research groups who have special expertise in gene therapy and could help us build our growing capabilities in this area.
Grants and Contributions
Pfizer offers grants and funding for research and programs designed to improve daily life and outcomes for patients with rare diseases.
Pfizer Rare Disease Consortium
Pfizer is focusing on collaborations with world-class R&D organizations to advance and speed rare disease treatment innovations. The Pfizer Rare Disease Consortium in the UK, our first center of excellence in rare disease research, is a model for future collaborations in Europe and the US.