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This Week in Science: Jan 5, 2013

In Science this week, two new studies describe the use of the prokaryotic CRISPR adaptive immune system for editing mammalian genomes, suggesting that approach could be a tool for deleting or revising genes simultaneously at several sites on the genome. In the first report, Broad Institute researchers detail how they engineered two CRISPR systems to show that Cas9 nucleases can be directed by short RNAs to induce precise cleavage at endogenous genomic loci in both human and mouse cells. In the second paper, a Harvard Medical School team shows that CRISPR-mediated genome editing can be used on a variety of human cell lines, including induced pluripotent stem cells, and that the method offers advantages over TALEN-based editing systems.

Daily Scan's sister publication GenomeWeb Daily News has more on these studies here.

Over in Science Translational Medicine, researchers from Denmark report on their development of Yucatan minipigs that overexpresses human D374Y-PCSK9 in their livers. The model, they add, "developed severe hypercholesterolemia and human-like progressive atherosclerotic lesions on a HFHC diet and may be used for translational research in imaging technologies, intravascular devices, life-style factors, and drug therapy."

The Scan

UK Pilot Study Suggests Digital Pathway May Expand BRCA Testing in Breast Cancer

A randomized pilot study in the Journal of Medical Genetics points to similar outcomes for breast cancer patients receiving germline BRCA testing through fully digital or partially digital testing pathways.

Survey Sees Genetic Literacy on the Rise, Though Further Education Needed

Survey participants appear to have higher genetic familiarity, knowledge, and skills compared to 2013, though 'room for improvement' remains, an AJHG paper finds.

Study Reveals Molecular, Clinical Features in Colorectal Cancer Cases Involving Multiple Primary Tumors

Researchers compare mismatch repair, microsatellite instability, and tumor mutation burden patterns in synchronous multiple- or single primary colorectal cancers.

FarGen Phase One Sequences Exomes of Nearly 500 From Faroe Islands

The analysis in the European Journal of Human Genetics finds few rare variants and limited geographic structure among Faroese individuals.