New Kids First datasets offer insights into genetics of childhood disorders

The new Kids First datasets advance our understanding of how genetics contribute to childhood cancers and congenital disorders, opening new doors for prevention and treatment.

WHO: The Gabriella Miller Kids First Pediatric Research Program (Kids First), an initiative of the National Institutes of Health (NIH)

WHAT: Kids First announces the release of two comprehensive new pediatric research datasets exploring childhood cancers and congenital disorders. New publicly available datasets include:

CHILDHOOD CANCERS

Gabriella Miller Kids First (GMKF) Pediatric Research Program in Susceptibility to Ewing Sarcoma Based on Germline Risk and Familial History of Cancer 

Principal Investigator: Joshua D. Schiffman, MD. Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, USA. 

Ewing sarcoma (EWS) is a deadly bone cancer that occurs in children and adolescents. WGS was performed on about 375 EWS trios. Phenotypic data, including detailed family history, was provided. This study aims to identify EWS predisposition genes and genome-wide GGAA microsatellite repeats that increase disease risk, as well as de novo mutation and structural variant rates. 

CONGENITAL DISORDERS

Gabriella Miller Kids First Pediatric Research Project in Cornelia de Lange Syndrome, Related Diagnosis, and Structural Birth Defects 

Principal Investigator: Ian Krantz, MD. Children’s Hospital of Philadelphia, Philadelphia, PA, USA.

This study involves a cohort of 400 individuals and family members with Cornelia de Lage Syndrome (CdLS) and CdLS-like phenotypes. CdLS is a developmental disorder characterized by developmental delays, cognitive impairment, short stature, hearing loss, specific facial features, and various structural birth defects. This work will identify genes critical in human embryonic development, provide novel insights into transcriptional regulation, and help identify genetic causes and candidate genes for isolated birth defects seen in constellations in similar diagnoses. 

WHEN: Both datasets are immediately available.

WHERE: The Kids First Data Resource Center (Kids First DRC) contains a quality collection of more than 188,000 data records, including this newly released data. Use the links embedded in the description titles for detailed information about the new datasets listed above. 

WHY: The Kids First DRC Portal offers a centralized repository of harmonized genomic sequencing data from children with pediatric cancer and congenital disorders. This data is freely accessible to scientists and researchers worldwide. By connecting researchers to this resource, Kids First DRC aims to accelerate the development of new treatments that are difficult to achieve through isolated research efforts.