About this Research Topic
Skeletal dysplasia (SD), also known as osteochondrodysplasia, is a group of heterogeneous genetic disorders characterized by abnormal growth, development, differentiation, and maintenance of the bone and cartilage. There are very few treatments for skeletal dysplasia and therapy is largely supportive at present. Recently, a large number of genes responsible for skeletal dysplasia have been identified, leading to a better understanding of cellular and biological pathways involved in skeletogenesis. Currently, several clinical trials are ongoing, and some new drugs are available for patients with SDs.
The application of next generation sequencing (NGS) to the field of SDs has boosted the discovery of the underlying genetic defect for many SDs. However, there are still SDs which are not completely characterized and many for which the causative gene(s) have not yet been identified. Several drugs for SDs have been developed, however some of them have limited effectiveness on bone. NGS has also helped uncover novel mechanisms of disease for SDs. Although there are still very few treatments for SDs, several drugs for SDs have recently been developed. New therapeutic approaches have emerged such as cellular therapy, gene therapy, or pharmacological therapy for various SDs.
The main purpose of this Research Topic is to improve the sharing of knowledge on SDs, and to develop and implement the existing and novel interventions and strategies for early recognition, diagnosis, and treatment.
We are particularly interested in Original Research articles, Mini Reviews, Reviews, and Clinical Trials covering, but not limited to, the following subjects:
• Very rare or unidentified SDs and quality of life in SD
• Diagnosis of SD using NGS panel
• Preclinical research of screening of drugs for SDs
• Clinical trials of treatment for SDs
• Unmet needs of current therapy in SD & bone-targeting preclinical studies
• Bone-related biomarkers
• Identification of novel and responsible genes for SDs
• A stepwise approach to diagnosing skeletal dysplasia prenatally
• Indications and management options for surgical /orthopedic intervention for skeletal dysplasia
• Novel disease mechanisms underlying skeletal dysplasias
• Repurposing of drugs for treatment of SD's
• Radiolographic clues for diagnosis of SD
• Experience with exome or genome sequencing for Skeldys diagnosis
• Diagnosing skeletal dysplasias in resource-limited settings
The application of next generation sequencing (NGS) to the field of SDs has boosted the discovery of the underlying genetic defect for many SDs. However, there are still SDs which are not completely characterized and many for which the causative gene(s) have not yet been identified. Several drugs for SDs have been developed, however some of them have limited effectiveness on bone. NGS has also helped uncover novel mechanisms of disease for SDs. Although there are still very few treatments for SDs, several drugs for SDs have recently been developed. New therapeutic approaches have emerged such as cellular therapy, gene therapy, or pharmacological therapy for various SDs.
The main purpose of this Research Topic is to improve the sharing of knowledge on SDs, and to develop and implement the existing and novel interventions and strategies for early recognition, diagnosis, and treatment.
We are particularly interested in Original Research articles, Mini Reviews, Reviews, and Clinical Trials covering, but not limited to, the following subjects:
• Very rare or unidentified SDs and quality of life in SD
• Diagnosis of SD using NGS panel
• Preclinical research of screening of drugs for SDs
• Clinical trials of treatment for SDs
• Unmet needs of current therapy in SD & bone-targeting preclinical studies
• Bone-related biomarkers
• Identification of novel and responsible genes for SDs
• A stepwise approach to diagnosing skeletal dysplasia prenatally
• Indications and management options for surgical /orthopedic intervention for skeletal dysplasia
• Novel disease mechanisms underlying skeletal dysplasias
• Repurposing of drugs for treatment of SD's
• Radiolographic clues for diagnosis of SD
• Experience with exome or genome sequencing for Skeldys diagnosis
• Diagnosing skeletal dysplasias in resource-limited settings
Keywords: Skeletal dysplasia, novel treatment, bone-targeting drug, osteochondrodysplasia, genetics, next generation sequencing
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