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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

Positive Framing of Genetic Studies Can Spark Mistrust Among Underrepresented Groups

Researchers in Human Genetics and Genomics Advances report that how researchers describe genomic studies may alienate potential participants.

Small Study of Gene Editing to Treat Sickle Cell Disease

In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms.

Gut Microbiome Changes Appear in Infants Before They Develop Eczema, Study Finds

Researchers report in mSystems that infants experienced an enrichment in Clostridium sensu stricto 1 and Finegoldia and a depletion of Bacteroides before developing eczema.

Acute Myeloid Leukemia Treatment Specificity Enhanced With Stem Cell Editing

A study in Nature suggests epitope editing in donor stem cells prior to bone marrow transplants can stave off toxicity when targeting acute myeloid leukemia with immunotherapy.