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This Week in Science: Apr 26, 2019

In Science Translational Medicine this week, a team of scientists from industry and academia describe a platform for the diagnosis of genetic diseases in sick children using rapid whole-genome sequencing and automated phenotyping and data interpretation. The platform analyzes electronic health record and genomic sequencing data from both fresh and dried blood samples, and provides an automated provisional diagnosis that the researchers say concurred with expert manual interpretation in 95 children with 97 genetic diseases with 97 percent sensitivity and 99 percent precision. Notably, three of seven seriously ill infants were diagnosed by the platform with 100 percent sensitivity and precision, with a mean time savings of more than 22 hours. "Diagnosis of seriously ill infants with diseases of unknown etiology represents an early application of autonomous diagnostic systems because such cases are abundant ... and a faster time to result is critical for optimal outcomes," they conclude. GenomeWeb has more on this, here.

And in last week's Science Translational Medicine, a multi-institute team reports the successful correction of a lung disease-causing genetic mutation in mouse embryos using CRISPR-Cas9 genome editing. The scientists developed a technique for the precisely timed intra-amniotic delivery of CRISPR reagents to fetal lung cells, which they used to target a disease-causing mutation in a mouse model. The treatment led to improved lung morphology and increased survival in fetuses and post-natal mice, pointing to the therapeutic potential of in utero gene editing.

Meanwhile, in Science Advances last week, a group of Chinese researchers describe a homology-directed repair-based gene editing approach that corrects a genetic eye disorder in mice. The technique uses a DNA template to repair Cas-9-mediated double-strand DNA breaks and incorporates the Escherichia coli recombinase A, or RecA, protein to boost homologous recombination efficiency. The researchers used their method to correct the pathogenic mutation in mouse model of retinitis pigmentosa, improving the survival of retinal cells and enhancing visual function in the animals.

The Scan

Machine Learning Helps ID Molecular Mechanisms of Pancreatic Islet Beta Cell Subtypes in Type 2 Diabetes

The approach helps overcome limitations of previous studies that had investigated the molecular mechanisms of pancreatic islet beta cells, the authors write in their Nature Genetics paper.

Culture-Based Methods, Shotgun Sequencing Reveal Transmission of Bifidobacterium Strains From Mothers to Infants

In a Nature Communications study, culture-based approaches along with shotgun sequencing give a better picture of the microbial strains transmitted from mothers to infants.

Microbial Communities Can Help Trees Adapt to Changing Climates

Tree seedlings that were inoculated with microbes from dry, warm, or cold sites could better survive drought, heat, and cold stress, according to a study in Science.

A Combination of Genetics and Environment Causes Cleft Lip

In a study published in Nature Communications, researchers investigate what combination of genetic and environmental factors come into play to cause cleft lip/palate.