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Study Description

The Gabriella Miller Kids First Pediatric Research Program (Kids First) is a trans-NIH effort initiated in response to the2014 Gabriella Miller Kids First Research Act 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.

All of the WGS and phenotypic data from this study are accessible through dbGaP and kidsfirstdrc.org, where other Kids First datasets can also be accessed.

For the current study, families with inherited adolescent idiopathic scoliosis were included. Both affected and unaffected family members were included.

  • Study Weblink:
  • Study Type: Cohort
  • Number of study subjects that have individual level data available through Authorized Access: 300

Authorized Access
Publicly Available Data (Public ftp)

Connect to the public download site. The site contains release notes and manifests. If available, the site also contains data dictionaries, variable summaries, documents, and truncated analyses.

Study Inclusion/Exclusion Criteria

Subjects included in this study are children treated for Idiopathic Scoliosis (IS) with curves measuring at or above 20 degrees and their similarly affected and unaffected family members. All ages were included. No particular race, ethnic group, or gender is targeted or excluded from this research. Participants should be able to speak and read English or Spanish. Participants should have the ability to give informed consent.

Exclusion criteria include subjects with co-existing diagnoses that may be suggestive non-idiopathic disease.

Molecular Data
TypeSourcePlatformNumber of Oligos/SNPsSNP Batch IdComment
Whole Genome Genotyping Affymetrix AFFY_6.0 934940 52074
Whole Genome Sequencing Illumina HiSeq X N/A N/A
Study History

Adolescent idiopathic scoliosis is a genetically complex spine deformity. Genome-wide association studies have identified a limited number of risk loci that collectively represent a small fraction of the variation underlying disease risk. We have systematically collected families segregating Mendelian AIS. Probands and family members were ascertained through surgeons in pediatric orthopaedic clinics, mostly at Texas Scottish Rite Hospital for Children, a tertiary facility specializing in musculoskeletal developmental disorders. Other affected family members were diagnosed from medical history and standing radiographs of the spine. Most families were previously genotyped on high density SNP arrays and were negative for large segregating segmental or chromosomal anomalies.

Selected publications
Diseases/Traits Related to Study (MESH terms)
Links to Related Resources
Authorized Data Access Requests
Study Attribution