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.

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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.

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iPSC-derived models

Patient-derived and genetically engineered iPSC lines
Differentiation into specialised cell types (e.g., neurons, cardiomyocytes)
Organoid systems for modeling tissue-specific pathophysiology.

Functional genomics

CRISPR/Cas9 genome editing for knockout, knock-in and transcriptional regulation studies
RNAi platforms for gene silencing.

Omics, bioinformatics and pathway analysis

Transcriptomics, proteomics and epigenomics analysis
Single-cell sequencing.

Phenotypic screening

High-content imaging for cell behavior and pathway activity
Mechanistic assays for drug action characterisation.

In vivo services

Our in vivo capabilities support rare disease drug development:

Genetically modified rodent models mimicking rare disease phenotypes
Custom model development for ultra-rare conditions
Pharmacology and biomarker analysis
PK/PD studies to optimise dosing strategies
Non-invasive imaging technologies for functional assessment.

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