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This Week in Nature: Dec 11, 2014

In Nature this week, a team led by scientists from Massachusetts General Hospital and the Broad Institute report on the discovery of multiple rare genetic mutations that increase the risk of early-onset heart attack. Using pooled data analyzing the protein-encoding regions of more than 9,000 genomes, the team found mutations in the low-density lipoprotein (LDL) receptor gene and in the apolipoprotein A-V gene. Carriers of the mutations had elevated levels of plasma LDL cholesterol and plasma triglycerides, respectively, and were more likely to experience heart attacks earlier in their lives than non-carriers.

And in Nature Biotechnology, Genentech researchers publish the results of an RNA sequencing and single-nucleotide polymorphism array analysis of 675 human cancer cell lines, and subsequent analyses of transcriptome features including gene expression, mutations, gene fusions, and expression of non-human sequences. Of the 2,200 gene fusions cataloged, more than 1,400 consist of genes not previously found in fusions, providing leads for further investigation. The team also describes multiple genome and transcriptome features in a pathway-based approach to enhance prediction of response to targeted therapeutics. 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.