Our team of experts has extensive experience in developing and characterizing animal models of skeletal rare diseases, as well as in providing a range of preclinical research services to support drug development. Our disease modeling services include the development of custom animal models of skeletal rare diseases using a variety of techniques, such as genetic engineering and chemical induction. We work closely with our clients to develop models that closely mimic the human disease phenotype and optimize models for specific research applications.
Background of Skeletal Rare Diseases
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.
Animal Models of X-linked Hypophosphatemia
X-linked Hypophosphatemia (XLH) is characterized by low phosphate levels in the blood and leads to clinical manifestations such as growth disorders, osteomalacia, skeletal abnormalities, hearing difficulties, osteoarthritis, and muscle dysfunction.