Rare diseases

Tailored solutions to address rare diseases 

Nuvisan provides tailored research solutions to advance drug discovery and development for rare diseases. With our integrated approach and advanced technology platforms, we offer services that address the unique challenges of rare disease research, including limited patient populations and the need for precise mechanistic understanding. 

Key focus areas: 

• Human induced pluripotent stem cell (iPSC) models for rare genetic diseases 
• CRISPR/Cas9-based functional genomics 
• Biomarker discovery and validation 
• Disease-specific assay development. 

Rare disease expertise 

Our rare disease capabilities encompass: 

• Target discovery and validation: using next-generation sequencing (NGS), bioinformatics and functional genomics to identify and validate novel therapeutic targets
• In vitro models: development of patient-derived iPSCs and disease-relevant organoids
• High-throughput screening (HTS): screening of small molecule, biologic and genetic libraries to identify potential drug candidates
• Biomarker development: discovery and validation of biomarkers to support early diagnosis, patient stratification and efficacy monitoring.