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Rare Diseases


Pfizer's Rare Disease Research Unit (RDRU) is adopting an innovative and collaborative approach to the development of new medicines whereby it looks to develop strategic partnerships with academic and commercial enterprises to create novel therapeutics across the spectrum of rare diseases. A key mission is to create next generation medicines by exploring pathogenic mechanisms that apply to clusters of monogenic diseases. Many orphan diseases are caused by protein misfolding, mistrafficking, and/or accumulation, and Pfizer's RDRU is focusing on building capabilities to explore and address these aspects of proteinopathy. Key learnings will be leveraged to select new targets, projects, and additional enabling technologies with the goal of contributing to Pfizer's innovative pipeline.

WRD is interested in establishing alliances to develop therapeutics, expand disease biology understanding, and identify biomarkers that impact:

  • Hematology
    • Hemophilia
      • Extended half-life of coagulation factors
      • Oral anti-hemophilic agents
      • Immune tolerance
    • Other rare hematologic (non-malignant) indications
      • Sickle cell anemia & beta-Thalassemia with focus on disease modifying and/or therapies that significantly change disease pathology
      • Hemostasis (systemic and topical)
  • Orphan Neuromuscular Diseases
    • Duchenne/Becker muscular dystrophy and myotonic dystrophy: complement internal muscle-building approaches with disease-modifying therapies
    • Friedreich's ataxia: upregulate frataxin expression
    • Amyotrophic lateral sclerosis (ALS): protein misfolding approaches
    • Disease modifying approaches for other neuromuscular diseases, such as spinal muscular atrophy (SMA)
  • Other Proteinopathies
    • Lysosomal storage diseases
    • Novel enzyme replacement therapies (e.g., extended half-life or blood-brain barrier penetration)
    • Small molecule approaches
    • Alpha-1 antitrypsin deficiency
  • General Mechanisms of Interest
    • Chaperones and other modifiers of protein trafficking, misfolding, or degradation that could span across multiple diseases
    • Targeting technologies/platforms (e.g., muscle and CNS targeting)
    • Modifiers of gene transcription via epigenetic approaches
    • Novel or differentiated protein replacement therapies
    • Gene therapy approaches
    • Antibody-drug conjugates

Not actively seeking partnering opportunities in:

  • Undifferentiated approaches towards enzyme replacement in well-served markets
  • Intrathecal enzyme replacement therapy

R & D Brochure


Understand what R&D is looking for in an early stage opportunity.


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