Rare diseases, also known as orphan diseases, are a diverse group of disorders that affect a small percentage of the population. Due to their low prevalence and limited understanding, treating and finding cures for these conditions present significant challenges. However, preclinical animal models have emerged as invaluable resources for advancing research and unraveling the mysteries surrounding rare diseases.


Animal models play a critical role in biomedical research, as they allow scientists to study complex disease processes, develop new therapies, and test their safety and efficacy before moving into human clinical trials. To date, several excellent models have already been developed, such as the GAA-knockout mouse model for Pompe’s disease and the Sgca-null mouse model for α-sarcoglycanopathy. Some of these have already led to the development of much-needed therapies such as ERTs. Nevertheless, there is a continuing need to develop more effective models to facilitate drug development and clinical trial design for rare diseases.


One of the key benefits of developing rare disease animal models is their ability to mimic human physiology and pathophysiology. Researchers can induce and replicate specific rare diseases in animals by using genetic manipulation techniques, exposing them to various environmental factors, or incorporating specific gene mutations. These models closely resemble human disease, enabling scientists to study disease progression, identify biomarkers, and assess potential therapeutic interventions. For instance, mouse models have been influential in studying conditions like cystic fibrosis, Huntington’s disease, and inherited metabolic disorders. By recreating the genetic mutations found in humans, researchers can gain insights into disease mechanisms, identify potential drug targets, and evaluate the effectiveness of various treatment strategies.


In addition, animal models also provide a platform for testing novel therapies. Scientists can assess the safety and efficacy of potential drugs or therapeutic interventions in animals before conducting human trials. This not only helps to identify any potential harmful effects or side effects but also provides insight into the effectiveness of these treatments. Animal models allow researchers to closely monitor the physiological and behavioral responses of animals to different drugs, which can help in refining dosages and treatment regimens for human use.


Furthermore, animal models serve as vital tools for studying emotional function and cognitive processes. By conducting cognitive behavioral testing, scientists can gain valuable insights into the neural and behavioral mechanisms underlying processes such as learning, memory, and decision-making. These findings can then be applied to improve the understanding of similar processes in humans, leading to advancements in fields such as psychology and neuroscience.


Overall, the use of animal models in scientific research is essential for advancing medical knowledge and improving human health. So far, some biotech giants have established a series of research and development technologies for genetically modified animal models, such as gene cloning, gene knockout plasmid construction, experimental animal embryonic stem cell manipulation, strain breeding, and phenotype analysis. Combined with these technologies, there would be more stable and reliable animal models available for researchers to explore rare diseases.