Skip to main content

In the field of medical research, a vital collaboration between the National Institutes of Health (NIH) Common Fund’s Gabriella Miller Kids First Pediatric Research Program (Kids First) and the NIH INCLUDE Project is generating a novel dataset across pediatric conditions including Down syndrome (DS), leukemia, and heart defects, with a central mission to unveil the shared genetic pathways among these disorders.

This extensive dataset is readily accessible through the Kids First Data Resource Portal and the INCLUDE Data Hub. Led by Dr. Stephanie Sherman from Emory University and Dr. Philip Lupo from Baylor College of Medicine, in conjunction with the Crnic Institute Human Trisome Project™ (HTP) helmed by Dr. Joaquin Espinosa at the University of Colorado Anschutz Medical Campus and the Pediatric Cardiac Genomics Consortium (PCGC), this research endeavor has produced substantial data, encompassing over 2,800 participants with DS.

Significantly, this dataset is among the largest ever released on the Kids First Portal or INCLUDE Data Hub, amassing over 16,000 files and a staggering 64TB of data. This invaluable resource is freely accessible for general research purposes, representing a pivotal advancement in the realm of medical research.

Already, scientists are capitalizing on the potential of this dataset to generate meaningful findings. For example, a recent study identified distinct genetic features in B-cell acute lymphoblastic leukemia (B-ALL) among individuals with DS, offering promising avenues for more targeted and effective therapies that can benefit a broader patient population.

Kids First and INCLUDE jointly champion the pursuit of understanding the intricate connections between congenital disorders, childhood cancer, DS, and co-occurring conditions. With access to these rich genomic datasets, researchers are empowered to expedite their investigations, all with the ultimate goal of providing children with improved medical treatments that promise a brighter, healthier future.

For those inspired by the remarkable work underway at Kids First and INCLUDE, avenues for involvement are open. You can delve deeper into the Kids First program and access their invaluable Kids First Data Resource Portal. If you’re interested in exploring the INCLUDE Data Hub, access is just a click away.

Bridging Gaps: Kids First and INCLUDE

Kids First: A Data-Driven Force

Kids First is a pioneering initiative dedicated to understanding the genetic underpinnings of childhood cancer and birth defects. Their team of experts collaborate closely with patient families to unravel the biological causes of these diseases, with the ultimate aim of developing more targeted treatments. Central to Kids First is their Data Resource Portal, housing a trove of carefully normalized raw data, enabling meaningful comparisons across various pediatric conditions.

INCLUDE Project: Elevating Lives with Down Syndrome

The INCLUDE Project, launched in 2018 by the National Institutes of Health (NIH), focuses on understanding the unique health needs of individuals with Down syndrome. This wide-ranging effort addresses co-occurring conditions such as Alzheimer’s, autism, leukemia, and congenital heart defects, which are more prevalent in those with DS. With investments exceeding $258 million in over 269 projects, this comprehensive initiative involves numerous NIH component Institutes and Centers.

Close Menu