Skeletal development occurs under two distinct processes, endochondral and membranous ossification. Endochondral ossification forms the appendicular skeleton through a cartilaginous intermediate that will be later replaced by bone. On the contrary, the bones of the skull, lateral clavicle and pubis form through membranous ossification, which results from cells that mineralize their matrix directly into bone. Multiple molecular mechanisms act in concert to regulate skeletal formation, growth and homeostasis, and perturbations to these tightly regulated processes lead to skeletal pathologies, such as short stature, bone deformity, bone fragility and others. Because of this, elucidating the mechanisms that control skeletogenesis is critical for understanding skeletal physiology but most importantly for designing effective therapeutics against premature bone loss and increased fragility.
Skeletal dysplasias are a group of genetic disorders that affect primarily cartilage and bone but can also have an impact in other organs including muscle, tendons, ligaments and the respiratory system. Skeletal dysplasias may also recapitulate multiple bone pathologies of non-genetic origin; for example, Osteogenesis Imperfecta may be viewed as the genetic version of osteoporosis. Therefore the study of these rare genetic disorders can lead to significant advances in common skeletal diseases. In the recent years there has been a great increase in the identification of the genes that cause skeletal dysplasias and their mechanisms of disease, allowing for the development of new personalized treatments directed to improve the quality of life of patients. However, we are far from achieving our goal of curing skeletal pathologies.
Therefore, the goal of this Research Topic is to contribute the most recent advances in molecular and genetics studies of skeletal biology and diseases and in the development of new cutting-edge treatments. We anticipate that this Research Topic will constitute an invaluable resource for basic and translational scientists and also clinicians and physicians committed to the study of the skeleton.
We welcome Original Research articles, Case Reports and Review articles addressing the following aims in skeletal development and disease:
• Gene discovery
• Mechanisms of disease of skeletal dysplasias, age related disorders and cancer
• Development of new treatments or repurposing of drugs used in a more personalized manner
• Genetic studies of skeletal development
• Basic and translational research using different animal and cellular models
• Genomic and transcriptomic studies
Skeletal development occurs under two distinct processes, endochondral and membranous ossification. Endochondral ossification forms the appendicular skeleton through a cartilaginous intermediate that will be later replaced by bone. On the contrary, the bones of the skull, lateral clavicle and pubis form through membranous ossification, which results from cells that mineralize their matrix directly into bone. Multiple molecular mechanisms act in concert to regulate skeletal formation, growth and homeostasis, and perturbations to these tightly regulated processes lead to skeletal pathologies, such as short stature, bone deformity, bone fragility and others. Because of this, elucidating the mechanisms that control skeletogenesis is critical for understanding skeletal physiology but most importantly for designing effective therapeutics against premature bone loss and increased fragility.
Skeletal dysplasias are a group of genetic disorders that affect primarily cartilage and bone but can also have an impact in other organs including muscle, tendons, ligaments and the respiratory system. Skeletal dysplasias may also recapitulate multiple bone pathologies of non-genetic origin; for example, Osteogenesis Imperfecta may be viewed as the genetic version of osteoporosis. Therefore the study of these rare genetic disorders can lead to significant advances in common skeletal diseases. In the recent years there has been a great increase in the identification of the genes that cause skeletal dysplasias and their mechanisms of disease, allowing for the development of new personalized treatments directed to improve the quality of life of patients. However, we are far from achieving our goal of curing skeletal pathologies.
Therefore, the goal of this Research Topic is to contribute the most recent advances in molecular and genetics studies of skeletal biology and diseases and in the development of new cutting-edge treatments. We anticipate that this Research Topic will constitute an invaluable resource for basic and translational scientists and also clinicians and physicians committed to the study of the skeleton.
We welcome Original Research articles, Case Reports and Review articles addressing the following aims in skeletal development and disease:
• Gene discovery
• Mechanisms of disease of skeletal dysplasias, age related disorders and cancer
• Development of new treatments or repurposing of drugs used in a more personalized manner
• Genetic studies of skeletal development
• Basic and translational research using different animal and cellular models
• Genomic and transcriptomic studies
