Rare diseases pose significant challenges in medicine due to their complexity, low prevalence, and limited treatment options. To bridge the gap between discovery and treatment, scientists rely on animal models, especially mouse models, to study these diseases in detail. Humans share mammalian features with mice and endure various disease. Due to this, mouse models serve as invaluable tools for understanding the genetic and biological mechanisms underlying rare conditions and for developing potential therapies.
The International Mouse Phenotyping Consortium (IMPC) provides resources for advancing rare disease research by providing genetically engineered mice and phenotyping data to study and identify genes linked to rare diseases. The ongoing efforts supply the scientific community with tools to improve rare disease understanding and develop effective treatments. The consortium’s own research also highlights the impact of IMPC on rare disease research. For example, in a recent study, Cacheiro et al. (2024) identified at least 109 validated rare disease – gene associations using IMPC resources.
How IMPC Mouse Models Contribute to Rare Disease Research
1. Genetic Models for Disease
Scientists create genetically modified mice to mimic rare human diseases. By altering specific genes and phenotyping the genetically modified mouse models, IMPC provides valuable data for researchers to observe how these changes affect development and progression, providing crucial insights into disease mechanisms.
2. Testing Potential Treatments
Mice serve as essential models for evaluating new treatments. With the mouse strains and embryonic stem cells IMPC provides, before human clinical trials, researchers can test drug safety and efficacy in mice, ensuring a foundational understanding of potential therapeutic benefits and risks.
3. Understanding Disease Mechanisms
The IMPC performs many phenotyping experiments, including behavioural test and freely shares the data of these phenotyping experiments. By studying disease behaviours in mice, researchers can uncover the underlying causes of rare conditions, which helps identify possible intervention points for new therapies.
4. Preclinical Testing
Mice play a vital role in preclinical testing by ensuring the safety and effectiveness of experimental treatments before they proceed to human trials, which is critical for regulatory approvals and minimising risks in human studies. In a recent commentary, Hölter et al. (2025), the IMPC consortium members highlight the impact of IMPC in preclinical research.
5. Biomarker Discovery
Identifying biomarkers is essential for early diagnosis and monitoring treatment response. The IMPC mouse models help researchers discover and validate biomarkers that can improve disease detection and patient outcomes.
6. Drug Development
Mouse models, such as those generated by IMPC, are also used in screening potential drug candidates, helping researchers identify targets genes to be used in targeted therapy.
IMPC continues to drive advances in rare disease research by making resources available to research world-wide as evidenced by the continuously growing numbers of studies citing IMPC. As research progresses, the continued use of mouse models remains vital in unlocking new therapies for rare diseases, offering hope to millions affected worldwide.
References:
Cacheiro P, Pava D, Parkinson H, et al. Computational identification of disease models through cross-species phenotype comparison. Dis Model Mech (2024). https://doi.org/10.1242/dmm.050604.
Hölter, S.M., Cacheiro, P., Smedley, D. et al. IMPC impact on preclinical mouse models. Mamm Genome (2025). https://doi.org/10.1007/s00335-025-10104-4