CHOP

The projects are organized by the Eliminate Cancer Initiative, the National Brain Tumor Society, and the Pediatric Brain Tumor Foundation.

Exome sequencing led to gain-of-function mutations in the calcium voltage-gated channel gene CACNA1E in 30 developmental and epileptic encephalopathy cases.

The phenome-wide association study focused on SNPs near potential drug target sites with ties to one or more phenotypes that might impact target suitability.

Editing in the Womb

Researchers use a CRISPR approach in utero to treat a lethal condition in mice, Stat News reports.

CHOP's Gabriella Miller Kids First Pediatric Data Resource Center will use PhenoTips software from Gene42 to integrate "deep phenotyping" with genomic data.

Researchers at Columbia University and CHOP believe they can shorten time to diagnosis and improve yield by extracting phenotypic data from EHRs for genomic labs.

Investigators identified ties between autism spectrum disorder and mitochondrial haplogroups in mtDNA variant data from nearly 1,000 ASD-affected families.

Hospital will partner with several other institutions in this effort to support data-driven research into pediatric cancers and structural birth defects.

Investigators are searching for non-invasive biomarkers of rejection and earlier stage graft injury in children and adults who have received kidney transplants.

Mutations in the WDR26 gene appear to contribute to a condition marked by intellectual disability, facial dysmorphism, and movement problems.

Pages

A genome-wide association study highlights a potential role for hair follicles in acne risk, according to New Scientist.

Newsday reports that breast cancer genetic testing guidelines for are out of date and may miss individuals.

In Cell this week: gene editing-based strategy to screen for immune system regulators, ancient plague patterns, and more.

Publication of He Jiankui's work on gene-edited infants would raise ethical concerns for journals, Wired and others report.