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Natural Knockouts

Some people just naturally lack a working copy of a gene, notes Antonio Regalado at MIT's Technology Review. Drug companies, he says, are particularly interested in some of these natural knockouts.

About a decade ago, researchers found three people who lacked a working version of the PCSK9 gene, and because of that, they had little LDL cholesterol in their blood — and companies quickly jumped on developing a drug to block PCSK9, he writes. Two such drugs have been approved by the US Food and Drug Administration, and they appear to lower cholesterol by some 75 percent.

To capitalize on that success, Regalado says that one of those companies is now putting together a database of other such natural human knockouts. Regeneron Pharmaceuticals says it plans to sequence the genomes of some 100,000 people to search for missing genes linked to disease or protection from disease.

"It's a huge emphasis for us because these are incredibly informative natural human experiments," Aris Baras, director of R&D initiatives for the company, tells Tech Review.

But Decode Genetics' Kari Stefansson says that such an approach may not necessarily lead to big new drugs. "It's not an argument without virtues, but it's also an incredible simplification. Most of these scenarios are more complicated," he adds.

The Scan

Transcriptomic, Epigenetic Study Appears to Explain Anti-Viral Effects of TB Vaccine

Researchers report in Science Advances on an interferon signature and long-term shifts in monocyte cell DNA methylation in Bacille Calmette-Guérin-vaccinated infant samples.

DNA Storage Method Taps Into Gene Editing Technology

With a dual-plasmid system informed by gene editing, researchers re-wrote DNA sequences in E. coli to store Charles Dickens prose over hundreds of generations, as they recount in Science Advances.

Researchers Model Microbiome Dynamics in Effort to Understand Chronic Human Conditions

Investigators demonstrate in PLOS Computational Biology a computational method for following microbiome dynamics in the absence of longitudinally collected samples.

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.