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.
