Rare diseases


Rare or orphan diseases affect only a small patient population, but are often burdensome, with early onset and severe or even life-threatening consequences. Many are of genetic origin but some develop without a genetic cause, such as certain autoimmune diseases or cancers. There are ~7,000 known rare diseases with many lacking effective treatment. Evotec has a longstanding experience in supporting the integrated R&D value chain across numerous rare diseases associated with different therapeutic areas and modalities.

  • Huntington’s Disease (HD) multi-year drug discovery alliance with the CHDI Foundation since 2006, including the development of a PET ligand for HD
  • Haematology disorders, haemophilia, von Willebrand disease, ADAMTS13 deficiency, hereditary angioedema and sickle cell disease treated via gene therapy
  • Muscular disorder treatments for for dysferlinopathy, FSHD, and  Duchenne’s muscular dystrophy explored with the Jain Foundation, Facio Therapies, and more clients
  • Lysosomal Storage Disorders such as Gaucher disease, modelled with iPSCs in collaboration with rare disease specialist Centogene 
  • Retinal disease collaboration with the Center for Regenerative Therapies Dresden (CRTD) initiated to drive the identification of iPSC-based cell therapies
  • Dravet syndrome treatment ensured through API development and commercial manufacture of FINTEPLA on behalf of Zogenix

Key capabilities of Evotec’s rare riseases discovery platform


  • Small molecules
  • Antibodies
  • RNA interference
  • Gene Therapy
  • Cell Therapy

In vitro biology

Automated analyses of tissue sections

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Mutant huntingtin aggregate analysis at single-cell level in defined regions of rodent brain tissue

Mutant huntingtin aggregate analysis at single-cell level in defined regions of rodent brain tissue

  • Viral and non-viral gene delivery systems
  • State-of-the-art AAV capsid engineering and optimisation of a diverse set of therapeutic payloads
  • Well established primary and iPS cell platforms to model disease biology
  • Application of leading technologies such as high-content imaging, flow cytometry, CRISPR and immunohistochemistry
  • In vitro and in vivo target validation methodologies

In vivo pharmacology

  • Proof of concept studies for screening of drug candidates utilising a variety of animal models and species 
  • Design, execution and interpretation of tailored CTA-enabling non-clinical gene therapy packages


  • Proven track record of delivery in Rare Diseases across therapeutic areas
  • Critical mass of >35 scientists experienced in applying gene therapy to monogenic rare diseases, including end-to-end pre-clinical development of therapeutic gene therapy and gene editing programs
  • Strong experience in CNS, metabolic, haematology and muscle-related rare diseases
  • Innovative technologies such as disease modelling from human iPS cells, phenotypic screening, AAV-based target validation and high-throughput histology
  • Support through regulatory and clinical development of all modalities, including CMC manufacture

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