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Gene Therapy for Rare Immune Disease Shows Promise in Clinical Study

Researchers report in the New England Journal of Medicine this week that a gene therapy for a rare immune disorder affecting infants appears to have restored immune function. The disease — Artemis-SCID — is a severe form of primary immunodeficiency caused by mutations in the DCLRE1C gene, which encodes the DNA-repair enzyme Artemis, and is typically treated via bone marrow transplants from matching donors. In a clinical study, researchers from the University of California, San Francisco, and elsewhere transfected a lentiviral vector containing DCLRE1C into autologous CD34+ cells harvested from the bone marrow of 10 infants newly diagnosed with Artemis-SCID. The cells were then transfused back into the children. The treatment successfully restored immune functioning in all of the babies with no serious adverse effects, according to the researchers. The findings, the investigators write, suggest that further development of the approach is warranted.

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.