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Skeletal rare diseases are a group of disorders that affect the development and maintenance of bone and cartilage tissues, leading to bone fragility, deformities, and growth abnormalities. These diseases are uncommon, with an estimated prevalence ranging from 1 in 10,000 to 1 in 100,000 individuals, depending on the specific disease. Due to their rarity and complexity, developing effective therapies is challenging. Currently, animal models have been used extensively in research on skeletal rare diseases to understand the underlying mechanisms of these diseases and test potential therapeutic interventions.

Rodents are the most widely used species for studying skeletal rare diseases. While rodents and humans have physiological differences, many signaling pathways in the musculoskeletal system are shared. This allows for the generation of mouse models that accurately mimic rare bone diseases in humans. These models provide a controlled population for study, under rigorous scientific conditions, with a genetically homogeneous background.

Source:https://www.protheragen.us/animal-models-for-skeletal-rare-diseases.html