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Aug 24, 2015

Many Pediatric Autoimmune Disorders Share Altered Genetic Loci, Study Finds

Through a meta-analysis of 10 pediatric-onset autoimmune diseases, Children's Hospital of Philadelphia researchers found 22 loci shared among the conditions.

Jul 09, 2015

St. Jude, Collaborators Awarded $15M NIH Grant to Support Leukemia Genomic Research

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The funding will support work identifying the mechanisms underlying the differential responses among pediatric and adult ALL patients to therapy.

Mar 30, 2015

ACMG: CHOP Team Considers Crowd Sourcing to Help Interpret Secondary Pediatric Sequencing Findings

A group of 10 so-called PediSeeker volunteers from the Children's Hospital of Philadelphia interpreted secondary variants in PediSeq exomes.

Mar 20, 2015

Scientists Sequence ALL Clones to Track Mutations Driving Relapse

Whole-exome sequencing shows that relapse in acute lymphoblastic leukemia is driven by cancer cells with sneakier, rather than more numerous, mutations.

Nov 21, 2014

GWAS Finds Four New Risk Sites for Inflammatory Food Allergy

Using a genome-wide association study approach, investigators at the Children's Hospital of Philadelphia and elsewhere have uncovered four new risk loci for an inflammatory food allergy condition called eosinophilic esophagitis.

Nov 12, 2014

Medgenics, CHOP Collaborate on Pediatric Rare, Orphan Genetic Diseases

NEW YORK (GenomeWeb) – Medgenics announced on Wednesday a collaboration with the Children's Hospital of Philadelphia to accelerate the development of new therapies for pediatric rare and orphan genetic diseases.

Nov 12, 2014

Study Teases Out Truly Drug-sensitive ALK Mutations ahead of Neuroblastoma Phase III Trial

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NEW YORK (Genomeweb) — A study comprehensively analyzing the genomes of more than 1,500 neuroblastoma cases has better determined the prognostic significance of ALK mutations and other alterations in neuroblastoma, and has biochemically investigated many of these variants to determine which ones

Sep 26, 2014

Researchers Link De Novo Mutations to Epileptic Encephalopathies

NEW YORK (GenomeWeb) – In the American Journal of Human Genetics, researchers from three consortia report a prominent role for de novo mutations in epileptic encephalopathies.

Jun 06, 2014

CHOP-led Team Describes Altered Autism Networks

NEW YORK (GenomeWeb News) – A Children's Hospital of Philadelphia-led team has identified autism spectrum disorder-related changes in three interacting gene sets, spelling out details about the biological processes behind the neuropsychiatric conditions.

Jun 04, 2014

CORRECTION: Omixon, CHOP to Commercialize New HLA Genotyping Assay for MiSeq

This article has been corrected to list all of the genes targeted by the assay. The previous version noted only one of them.

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The Scan

Vaccine Supply Chain Hacker Warning

IBM security researchers warn of a phishing campaign targeted at organizations involved in the distribution of SARS-CoV-2 vaccines, the Verge reports.

Illinois Cuts Forensic Testing Backlog

The Illinois police have cut the number of DNA tests waiting to be run in about half, CBS Chicago reports.

Lying Plea

A researcher accused of smuggling research materials out of the US has pleaded guilty to making false statements, according to the Associated Press.

Science Studies on Nonalcoholic Fatty Liver Disease Expression Signatures, Ties Between Gut Microbiome and Major Depression

In Science this week: gene expression signature linked to nonalcoholic fatty liver disease progression, and more.

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