Rare Disease Models

Explore the Mouse Biology Program’s specialized services for creating and phenotyping rare disease mouse models designed to mimic patient-specific genetic mutations and provide crucial insights for therapeutic investigations and clinical decision-making.

Genetic mutations resulting in rare diseases affect between 25 and 30 million Americans and are the leading cause of infant mortality and morbidity. Despite advances in whole genome sequencing, they remain poorly understood.

MBP has decades of experience producing, analyzing, and interpreting mouse models for biomedical research. We are now offering a specialized service to create and phenotype mouse models with genomic variants orthologous to variants of patients with rare diseases. By recapitulating the clinical presentation of the patients, these mouse avatars can become effective research tools to study the underlying pathophysiological impacts and causative nature of patient-specific genetic mutations and serve as surrogates for testing and therapeutic investigations.

Data obtained from these mouse mutants can inform clinical decision-making and accelerate the implementation of a therapeutic intervention plan for patients that would otherwise not have been possible without the benefit of additional patients with a similar presentation.

• Design Your Mouse
• Conditional Models
• Design Consultation Services
• Genetically Humanized Mouse Models
• Knockin Models
• Knockout Models
• Molecular Construct
• PDX Models
• Rare Disease Models
• Surgical Mouse Models
• Transgenic Models