The Gabriella Miller Kids First Data Resource Center (Kids First DRC) announces the availability of two new pediatric research datasets focused on Ewing sarcoma and Cornelia de Lange Syndrome. These datasets offer valuable insights into the genetic underpinnings of these conditions, paving the way for advancements in prevention and treatment strategies.
The Gabriella Miller Kids First Data Resource Center announced the release of two comprehensive new pediatric research datasets on February 5, 2025, advancing our understanding of genetics in childhood cancers and congenital disorders. These datasets hold immense potential for revolutionizing prevention and treatment strategies. The first dataset focuses on Ewing sarcoma, a deadly bone cancer affecting children and adolescents. Led by principal investigator Joshua D.
Schiffman, MD, at the Huntsman Cancer Institute, University of Utah, this study analyzed whole genome sequencing data from approximately 375 EWS trios, coupled with detailed phenotypic information, including family history. The aim is to pinpoint EWS predisposition genes, genome-wide GGAA microsatellite repeats that elevate disease risk, and identify rates of de novo mutations and structural variants. \The second dataset delves into Cornelia de Lange Syndrome (CdLS), a developmental disorder characterized by various symptoms like developmental delays, cognitive impairment, short stature, hearing loss, distinct facial features, and structural birth defects. Led by principal investigator Ian Krantz, MD, at the Children's Hospital of Philadelphia, this study encompasses a cohort of 400 individuals and family members with CdLS and CdLS-like phenotypes. This research aims to identify crucial genes involved in human embryonic development, shed light on transcriptional regulation mechanisms, and pinpoint genetic causes and candidate genes for isolated birth defects commonly observed in similar diagnoses. \Both datasets are readily available through the Kids First Data Resource Center (Kids First DRC), a centralized repository of harmonized genomic sequencing data from children with pediatric cancer and congenital disorders. The Kids First DRC contains over 188,000 data records and provides free access to this valuable resource for scientists and researchers worldwide. By connecting researchers and facilitating data sharing, the Kids First DRC strives to accelerate the development of innovative treatments, achieving breakthroughs that would be challenging through individual research efforts alone
GENETICS CHILDHOOD CANCERS CONGENITAL DISORDERS EWING SARCOMA CORNELIA DE LANGE SYNDROME RESEARCH DATASETS KIDS FIRST DATA RESOURCE CENTER
United Kingdom Latest News, United Kingdom Headlines
Similar News:You can also read news stories similar to this one that we have collected from other news sources.
Major Data Breach Exposes Location Data of MillionsA major international data breach has been reported where hackers targeted US company Gravy Analytics (GA), which brokers location data for thousands of popular apps. It is estimated that millions of users worldwide, including in the UK, might have had their location data stolen. Experts warn that this stolen data could be used for scams, blackmail, and other criminal activities. The hack also reveals the apps from which the data originated, including popular names like Vinted, Spotify, Candy Crush, and Tinder.
Read more »
Hackers Target US Data Broker Gravy Analytics, Exposing Location Data of MillionsA major international data breach is underway as hackers have targeted Gravy Analytics, a US company that brokers location data for thousands of popular apps. Millions of users, including those in the UK, are believed to be affected. The breach raises serious privacy concerns as stolen location data could be used for scams, blackmail, or even espionage.
Read more »
Data resilience and data portabilityWhy organizations should protect everything, everywhere, all at once
Read more »
New The First Descendant Season 3 character promises to be hot in first official detailsThe first official details about The First Descendant Season 3 new character reveal that she is set to be hot thanks to her unique skills.
Read more »
First look at 'new town' as Manchester to get lido for first time in decadesManchester once boasted multiple outdoor pools, but they closed down decades ago
Read more »
Laura Woods and Adam Collard welcome first child - sharing first pics and nameLove Island star Adam Collard and sports presenter Laura Woods have welcomed their first child together, with the pair sharing adorable first photos of their baby boy
Read more »