Project description:Plasma exosomal miRNA may differ between adolescent idiopathic scoliosis patients and healthy individuals. Sequencing analysis was used to find these differential miRNAs.
Project description:<p>The <a href="https://www.commonfund.nih.gov/KidsFirst">Gabriella Miller Kids First Pediatric Research Program</a> (Kids First) is a trans-NIH effort initiated in response to the<a href="https://www.govtrack.us/congress/bills/113/hr2019">2014 Gabriella Miller Kids First Research Act</a> and supported by the NIH Common Fund. This program focuses on gene discovery in childhood cancers and structural birth defects and the development of the Gabriella Miller Kids First Pediatric Data Resource (Kids First Data Resource). Both childhood cancers and structural birth defects are critical and costly conditions associated with substantial morbidity and mortality. Elucidating the underlying genetic etiology of these diseases has the potential to profoundly improve preventative measures, diagnostics, and therapeutic interventions. </p> <p>All of the WGS and phenotypic data from this study are accessible through dbGaP and <a href="https://kidsfirstdrc.org/">kidsfirstdrc.org</a>, where other Kids First datasets can also be accessed.</p> <p>For the current study, families with inherited adolescent idiopathic scoliosis were included. Both affected and unaffected family members were included.</p>
Project description:The purpose of the study was to determine differences in mRNA concentration of VDR isoforms in bone, cartilage and paravertebral muscles between tissues from curve concavity and convexity, between JIS and AIS and to identify VDR responsive genes differentiating Juvenile and Adolescent Idiopathic Scoliosis in paravertebral muscles.
Project description:Comparison of paraspinal muscle imbalance between idiopathic scoliosis and congenital scoliosis may shed some light on the causality of paraspinal muscle imbalance and idiopathic scoliosis. This study aims to compare the transcriptomic profiles of paraspinal muscle imbalance between idiopathic scoliosis and congenital scoliosis.
Project description:<p>Adolescent idiopathic scoliosis (AIS) is the most common pediatric spinal deformity. Although the Bracing in AIS Trial (BrAIST) recently demonstrated the effectiveness of bracing for preventing scoliosis progression in some patients, more than 20,000 children undergo major spinal fusion surgery at an annual cost of $3 billion. Spinal fusion surgery is a major operation with considerable risks and complications. Accurate methods of predicting curve progression are needed to develop personalized prevention strategies for those at high risk and to eliminate screening and treatment of those at low risk of progression. Previously identified risk factors for scoliosis curve progression include sex, age of onset, curve type, and presence of an underlying disorder. However, currently available algorithms for predicting AIS curve progression are inaccurate, possibly because the role of genetic factors has been largely unexplored. Because there is little a priori knowledge of the genetic variants involved in AIS pathology, an unbiased genome-wide approach is likely to provide the best opportunity to comprehensively identify disease-associated genes. This is a multicenter exome sequencing study of extreme cases with severe scoliosis. </p>