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Right in the Body

Researchers have used a CRISPR-based approach to treat a handful of people with transthyretin amyloidosis, a rare inherited disease marked by the buildup of a misshapen protein, NPR reports.

As they report in the New England Journal of Medicine, researchers led by the University College London's Julian Gillmore treated six patients with transthyretin amyloidosis and polyneuropathy with the CRISPR-based therapeutic. The treatment, dubbed NTLA-2001, includes a lipid nanoparticle delivery system directed to the liver that carries a single guide RNA targeting the TTR gene – the gene affected in the condition – and the Cas9 mRNA sequence. The researchers report in their paper that, following treatment, the patients exhibited a decline in their TTR serum protein levels and only experienced mild adverse effects.

The treatment, NPR notes, is the first time a CRISPR treatment has been given systemically to people – other therapies have involved the removal of affected cells, their editing outside the body, and then their return or the application of the therapy directly to affected cells. "This is really opening a new era as we think about gene-editing where we can begin to think about accessing all kinds of different tissue in the body via systemic administration," John Leonard, CEO of Intellia Therapeutics, which sponsored the study, tells NPR.

The Scan

Myotonic Dystrophy Repeat Detected in Family Genome Sequencing Analysis

While sequencing individuals from a multi-generation family, researchers identified a myotonic dystrophy type 2-related short tandem repeat in the European Journal of Human Genetics.

TB Resistance Insights Gleaned From Genome Sequence, Antimicrobial Response Assays

Researchers in PLOS Biology explore M. tuberculosis resistance with a combination of sequencing and assays looking at the minimum inhibitory concentrations of 13 drugs.

Mendelian Disease Genes Prioritized Using Tissue-Specific Expression Clues

Mendelian gene candidates could be flagged for further functional analyses based on tissue-specific transcriptome and proteome profiles, a new Journal of Human Genetics paper says.

Single-Cell Sequencing Points to Embryo Mosaicism

Mosaicism may affect preimplantation genetic tests for aneuploidy, a single-cell sequencing-based analysis of almost three dozen embryos in PLOS Genetics finds.