Skip to main content
Premium Trial:

Request an Annual Quote

This Week in Science: Dec 5, 2014

In this week's Science, Brown University's John Sedivy and colleagues present an overview of retrotransposons, mobile DNA elements involved genetic instability and evolution, highlighting their ubiquity in the human genome and how aging and disease may contribute to their activation in somatic tissue. In their Perspectives piece, the researchers note that many questions remain about somatic retrotransposons and point to the need for additional research into ways to combat the DNA damage they can cause and the therapeutic potential in doing so.

Meanwhile, in Science Translational Medicine, a team led by Children's Mercy–Kansas City researchers publishes a study showing that whole-genome sequencing (WGS) and whole-exome sequencing (WES) can reliably identify intellectual disability and autism in children who were previously undiagnosed by conventional tests. The researchers sequenced the genomes and exomes of 119 children with neurodevelopmental disorders and were able to diagnose specific diseases in 53 of them. They further calculated that the total cost for standard tests was more than $19,000, while WGS and WES cost no more than $7,640, making a case for the cost-effectiveness of such screening. GenomeWeb has more on this study here.

The Scan

New Study Highlights Role of Genetics in ADHD

Researchers report in Nature Genetics on differences in genetic architecture between ADHD affecting children versus ADHD that persists into adulthood or is diagnosed in adults.

Study Highlights Pitfall of Large Gene Panels in Clinical Genomic Analysis

An analysis in Genetics in Medicine finds that as gene panels get larger, there is an increased chance of uncovering benign candidate variants.

Single-Cell Atlas of Drosophila Embryogenesis

A new paper in Science presents a single-cell atlas of fruit fly embryonic development over time.

Phage Cocktail Holds Promise for IBD

Researchers uncovered a combination phage therapy that targets Klebsiella pneumonia strains among individuals experiencing inflammatory bowel disease flare ups, as they report in Cell.