Monogenic skeletal disorders constitute a diverse and rare spectrum of conditions characterized by anomalies in skeletal development and function, predominantly arising from mutations in pivotal genes essential for bone formation and homeostasis. While considerable progress has been made in pinpointing the causative genes, achieving a comprehensive understanding of the intricate molecular pathways governing skeletal health remains an ongoing challenge.
A profound comprehension of the molecular intricacies is pivotal to propel therapeutic modalities forward. The pursuit of targeted and personalized treatments seeks to rectify the underlying genetic aberrations, directly addressing the fundamental etiology of monogenic skeletal disorders. This concerted effort not only signifies a significant advancement in the field but also holds the potential to revolutionize the diagnostic and therapeutic landscape for individuals contending with these intricate and challenging conditions. The prospect of tailored treatments, grounded in a profound molecular understanding, opens new avenues for improving the quality of life and outcomes for individuals affected by monogenic skeletal disorders.
This Research Topic aims to deepen our understanding of the molecular mechanisms governing monogenic skeletal disorders and explore innovative treatment modalities. By fostering collaboration among researchers, geneticists, and clinicians, the goal is to accelerate the translation of molecular insights into effective and targeted treatments for individuals affected by monogenic skeletal disorders.
We encourage contributions to this topic in the form of original research, reviews, practice guides, or opinion pieces that include, but are not limited to:
● Genetic Investigations: Rigorous exploration of mutations within genes linked to monogenic skeletal disorders, unraveling their roles in skeletal development and maintenance
● Molecular Pathway Elucidation: In-depth studies revealing the intricate molecular pathways contributing to the pathogenesis of monogenic skeletal disorders
● Innovative Therapeutic Approaches: Exploration of cutting-edge strategies, including gene therapies, cell therapies, small molecule interventions, and regenerative medicine, aiming to correct monogenic skeletal disorders
● Clinical Insights: Submission of clinical studies offering valuable perspectives on the manifestation, diagnosis, and management of monogenic skeletal disorders.
Keywords:
Monogenic skeletal disorders, Skeletal development, Molecular pathways, Therapeutic interventions, Personalized medicine
Important Note:
All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.
Monogenic skeletal disorders constitute a diverse and rare spectrum of conditions characterized by anomalies in skeletal development and function, predominantly arising from mutations in pivotal genes essential for bone formation and homeostasis. While considerable progress has been made in pinpointing the causative genes, achieving a comprehensive understanding of the intricate molecular pathways governing skeletal health remains an ongoing challenge.
A profound comprehension of the molecular intricacies is pivotal to propel therapeutic modalities forward. The pursuit of targeted and personalized treatments seeks to rectify the underlying genetic aberrations, directly addressing the fundamental etiology of monogenic skeletal disorders. This concerted effort not only signifies a significant advancement in the field but also holds the potential to revolutionize the diagnostic and therapeutic landscape for individuals contending with these intricate and challenging conditions. The prospect of tailored treatments, grounded in a profound molecular understanding, opens new avenues for improving the quality of life and outcomes for individuals affected by monogenic skeletal disorders.
This Research Topic aims to deepen our understanding of the molecular mechanisms governing monogenic skeletal disorders and explore innovative treatment modalities. By fostering collaboration among researchers, geneticists, and clinicians, the goal is to accelerate the translation of molecular insights into effective and targeted treatments for individuals affected by monogenic skeletal disorders.
We encourage contributions to this topic in the form of original research, reviews, practice guides, or opinion pieces that include, but are not limited to:
● Genetic Investigations: Rigorous exploration of mutations within genes linked to monogenic skeletal disorders, unraveling their roles in skeletal development and maintenance
● Molecular Pathway Elucidation: In-depth studies revealing the intricate molecular pathways contributing to the pathogenesis of monogenic skeletal disorders
● Innovative Therapeutic Approaches: Exploration of cutting-edge strategies, including gene therapies, cell therapies, small molecule interventions, and regenerative medicine, aiming to correct monogenic skeletal disorders
● Clinical Insights: Submission of clinical studies offering valuable perspectives on the manifestation, diagnosis, and management of monogenic skeletal disorders.
Keywords:
Monogenic skeletal disorders, Skeletal development, Molecular pathways, Therapeutic interventions, Personalized medicine
Important Note:
All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.