Therapeutic Areas

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.

Here at Evotec we have expertise in various therapeutic areas and modalities, supporting the entire R&D process for rare disease therapeutics.

Our collaborations and alliances include long-term partnerships with organizations like the CHDI Foundation for Huntington's Disease research, gene therapy treatments for hematological disorders, muscular disorder treatments with foundations and clients, and collaborations for lysosomal storage disorders and retinal diseases. Evotec's rare disease discovery platform encompasses multiple modalities such as small molecules, antibodies, RNA interference, viral and nonviral gene therapy, and cell therapy. We utilize advanced in vitro biology techniques, gene delivery systems, cell platforms, and target validation methodologies. Our in vivo pharmacology studies are conducted to establish preclinical proof of concept screen drug candidates and design tailored non-clinic packages.

With a proven track record in rare diseases, our team of experienced scientists has expertise in CNS, metabolic, hematology, and muscle-related conditions, Evotec employs innovative technologies like disease modeling, AAV-based target validation, and high-throughput histology to support discovery, preclinical regulatory and clinical development phases, including manufacturing assistance.

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 , including the development of a PET ligand for HD 
  • Hematological disorders, including blood coagulation disorders , hereditary angioedema and sickle cell disease y 
  • Muscular disorder treatments 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 
  • CNS – affected diseases like 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

In Vitro Biology

  • Viral and non-viral gene delivery systems  including Gene Editing
  • State-of-the-art AAV capsid engineering and optimization 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, and immunohistochemistry 
Rare Diseaes Mutant Huntington Aggregate Analysis

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

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 in Rare Diseases across therapeutic areas 
  • Highly experienced in applying gene therapy to monogenic rare diseases, including end-to-end preclinical development of therapeutic gene addition and gene editing programs 
  • Strong experience in CNS, metabolic, hematology muscle-related and other rare diseases 
  • Established Innovative technologies across the entire spectrum of rare disease R&D
  • Support regulatory and clinical development of all modalities, including CMC manufacture