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Retina Cell Loss Reversed by Prime Editing in Mouse Model of Retinitis Pigmentosa

A Wuhan University of Science and Technology-led team reporting in the Journal of Experimental Medicine shares findings from a study that used prime editing tools to treat a mouse model of a retinal degeneration disease called retinitis pigmentosa, an inherited condition marked by progressive retinal photoreceptor loss. Using prime editors, an unconstrained, protospacer adjacent motif-free version of the Cas9 enzyme known as SpRY, and corresponding guide RNAs, together with an adeno-associated virus delivery system, the researchers tackled a form of retinitis pigmentosa caused by alterations affecting the phosphodiesterase 6b-coding gene PDE6b, demonstrating that they could correct the mutation, halt the progressive loss of photoreceptors, and improve visual responses in the mouse model. "Together, our study provides convincing evidence for the prevention of vision loss caused by [retinitis pigmentosa]-associated gene mutations via unconstrained in vivo prime editing in the degenerating retinas," the authors write.

The Scan

Open Pediatric Brain Tumor Atlas Team Introduces Genomic Data Collection, Analytical Tools

A study in Cell Genomics outlines open-source methods being used to analyze and translate whole-genome, exome, and RNA sequence data from the Pediatric Brain Tumor Atlas.

Neurological Outcomes Linked to Innate Immune Features After Cardiac Arrest

Researchers reporting in Med dig into immune features found a few hours after cardiac arrest that correspond with neurological outcomes.

Mouse Study Finds Circadian Rhythm-Related Gene Expression Changes Linked to Sleep Apnea

A paper in PLOS Biology reveals tissue-specific circadian rhythm and gene expression patterns in an intermittent hypoxia-based mouse model of obstructive sleep apnea.

Polygenic Risk Score to Predict Preeclampsia, Gestational Hypertension in Pregnant Women

Researchers in Nature Medicine provide new mechanistic insights into the development of hypertensive disorders of pregnancy, which may help develop therapeutics.