NIH Kids First Program announces the release of three new pediatric research datasets exploring childhood rare disease

(Press-News.org) 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 three 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 Investigators: 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. This study examined EWS trios increasing disease risk to identify EWS predisposition genes, genome-wide GGAA microsatellite repeats, and de novo mutation and structural variant rates.

CONGENITAL DISORDERS

The Genomic Basis of Structural Birth Defects Associated with Chromosome 18 Copy Number Changes
Principal Investigator: Jannine Cody, University of Texas Health Science Center at San Antonio, TX, USA.
Co-Investigators: Jonathan Gelfond, University of Texas Health Science Center at San Antonio; Santhosh Girirajan, University of Texas Health Science Center at San Antonio, TX, USA.

The cohort evaluated includes over 700 individuals with various chromosome 18 copy number changes. Genomic sequence data from this cohort could identify hypomorphic or hypermorphic allele variants and help discover new biallelic conditions. This cohort adds known susceptibility loci to existing Kids First structural birth defects cohorts and has a single defined risk factor which can simplify the search for secondary factors for polygenetic structural birth defects.

Kids First: Whole Genome Sequencing in Recessive Structural Brain Defects
Principal Investigators: Joseph G. Gleeson. University of California, San Diego, CA, USA.

Structural Brain Defects (SBDs) result from errors in the development of the central nervous system. Many SBDs arise due to a single gene bi-allelic mutation and occur more commonly in populations with elevated consanguinity. This study identified dozens of SBD genes using WES/WGS consanguineous SBD families and proposes collaborating with the KF X01 to sequence individuals from 200 families with genetically undiagnosed SBDs.

WHEN: All three new 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. For detailed information about the new datasets listed above, use the links embedded in their description titles. 

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.

About the Gabriella Miller Kids First Data Resource Center

As part of the NIH Common Fund’s Gabriella Miller Kids First Pediatric Research Program, Kids First DRC is a collaborative pediatric research effort to understand the genetic causes and links between childhood cancer and congenital disorders. Kids First DRC doctors, scientists, and researchers work together with patient families to understand the underlying causes of these diseases in children on a biological level and to ultimately support the development of improved and targeted treatments. Learn more at kidsfirstdrc.org.

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