Rare Disease Drug Development | WuXi Biology & Testing

Rare Disease Models & In Vivo Pharmacology

Rare diseases encompass a diverse group of genetic, metabolic, neurological, hematological, muscular, and immunological disorders, often requiring disease-specific models and specialized translational approaches to evaluate novel therapies.

To support discovery teams, WuXi Biology and Testing delivers a comprehensive portfolio of translational in vivo models and specialized testing services. By closely mimicking human disease pathways, our rare disease platform offers a series of animal models to investigate the underlying mechanisms of these disorders and evaluate potential therapeutic candidates with high predictive confidence.

From Model Generation to Pharmacology

Our rare disease platform offers an integrated pipeline from initial genetic design through study-ready cohort generation and translational pharmacology:

Custom Model Generation (6–12 Months): Microinjection, zygote injection, and embryo transfer techniques to generate precise knock-out, knock-in, and transgenic rodent models.
Top-Notch Colony Management: Complete lifecycle management including lineage purification, conventional breeding, in vitro fertilization (IVF), microinjection, and sperm/embryo cryopreservation to maintain genetic stability and cohort availability.
In-Depth Phenotypic Characterization: Thorough validation using behavioral test batteries, metabolite detection, MRI, micro-CT, electroencephalography (EEG), and electron microscopy.

Multimodal Efficacy & PK/PD Evaluation

We offer rigorous testing platforms designed for small molecules, RNA therapeutics, AAV-based therapeutics, ASOs, and enzyme replacement therapies.

Rare Neurological Disease Models

Rare neurological diseases present complex therapeutic challenges across neurodevelopmental, movement, motor neuron, and other neurological disorders. WuXi Biology and Testing provides a portfolio of in vivo models to support disease characterization and therapeutic evaluation across rare neurological indications.

Our rare neurological disease models include:

Motor Neuron & Neuromuscular Disorders: Spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS)
Neurodevelopmental & Epileptic Disorders: Rett syndrome, Angelman syndrome, Dravet syndrome, and infantile spasms
Neurodegenerative & Movement Disorders: Huntington’s disease, GBA-associated Parkinson’s disease, and spinocerebellar ataxia
Neuropsychiatric & Movement Disorders: Tourette syndrome

Rare Disease Model Portfolio

Beyond neurological diseases, we maintain a broad, well-characterized collection of mouse and rat models covering major rare genetic, metabolic, neurological, and hematological disorders.