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Rare Disease


Pfizer's Rare Disease Research Unit (RDRU), led by Chief Scientific Officer Kevin Lee, 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. Our commitment to academic collaboration is highlighted by the recent signing of the Rare Disease Consortium agreement with six of the leading Universities in the UK, providing a vehicle to work collaboratively with leading physician scientists on drug discovery projects. We are looking to capitalize on recent scientific advances linking diseases to specific genetic defects. As 70% of rare diseases are monogenic in origin, we believe this is an area where scientific knowledge is enabling significant advances in drug development. Our expertise in large molecule therapeutics, small molecule protein chaperones, and transcriptional modulators has resulted in a broad pipeline of potentially transformative medicines across multiple disease areas.

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

  • Hematology (non-malignent)
    • Hemophilia
      • Coagulation factors with extended duration of activity and/or improved delivery
      • Oral agents to treat hemophilia
      • Immune tolerance
      • Novel apprached (including gene therapy) to treat hemophilia patients
    • Other rare hematologic (non-malignant) indications
      • Sickle cell anemia & beta-Thalassemia follow on with focus on disease modifying and/or therapies that significantly change disease pathology
      • Hemostasis (systemic and topical)
      • Opportunistic approaches in the field of hematology that promise well differentied novel medicines
  • Neuromuscular Diseases
    • Duchenne/Becker muscular dystrophy and other muscular dystrophies, disease-modifying therapies preferred
    • Spinal Muscular Atrophy
    • Friedreich's ataxia: Upregulate frataxin expression, inhibition of degradation or frataxin pathway bypass
    • Amyotrophic lateral sclerosis (ALS): protein misfolding approaches and other disease-modifying approaches
  • Pulmonary Diseases
    • Cystic fibrosis (inconjunction with the CF Foundation)
    • Pulmonary arterial hypertension and idopathic pulmonary fibrosis

Disease modifying approaches for other diseases such as transthyretin amyloidosis, myasthenia gravis, Huntington's disease

  • General Mechanisms of Interest
    • Pharmacologic chaperone and other modifiers of protein trafficking, misfolding, or degredation that could apply to multiple diseases (e.g., a small molecule apporach that coudl apply across multiple lysosomal strorage disorders)
    • Targeting technologies/platforms (e.g., muscle and CNS targeting)
    • Modifiers of gene transcription via epigenetic approaches
    • Nucleic acid/gene therapy approaches to therapy
    • Antibody-drug conjugates
    • Oral small molecule and biologics approaches

Not actively seeking partnering opportunities in:

  • Undifferentiated approaches towards enzyme replacement in well-served markets
  • Medical devices
  • Diagnostic tests (inabsence of a therapeutic apporach)


R & D Brochure


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


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