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The Exome Scores Again

Researchers and clinicians at Massachusetts General Hospital report their use of exome sequencing to identify two nonsense mutations in ANGPTL3 as a cause of hypolipidemia in the New England Journal of Medicine this week. With funding from the National Human Genome Research Institute, among other sources, the Mass General team sequenced the complete exomes of two family members with combined hypolipidemia and found that they were both "compound heterozygotes for two distinct nonsense mutations in ANGPTL3" — the gene that encodes the angiopoietin-like 3 protein, which has been shown to increase plasma triglyceride and HDL cholesterol levels in rodents. "Our finding of ANGPTL3 mutations highlights a role for the gene in LDL cholesterol metabolism in humans and shows the usefulness of exome sequencing for identification of novel genetic causes of inherited disorders," the authors write.

The Scan

Study Finds Few FDA Post-Market Regulatory Actions Backed by Research, Public Assessments

A Yale University-led team examines in The BMJ safety signals from the US FDA Adverse Event Reporting System and whether they led to regulatory action.

Duke University Team Develops Programmable RNA Tool for Cell Editing

Researchers have developed an RNA-based editing tool that can target specific cells, as they describe in Nature.

Novel Gene Editing Approach for Treating Cystic Fibrosis

Researchers in Science Advances report on their development of a non-nuclease-based gene editing approach they hope to apply to treat cystic fibrosis.

Study Tracks Responses in Patients Pursuing Polygenic Risk Score Profiling

Using interviews, researchers in the European Journal of Human Genetics qualitatively assess individuals' motivations for, and experiences with, direct-to-consumer polygenic risk score testing.