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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

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.