cystic fibrosis

This Week in PNAS

In PNAS this week: drug resistance evolution in Candida in a cystic fibrosis patient, point mutation in cotton bollworm allows it to persist in "Bt" crops, and more.

Single-cell RNA sequencing from mouse trachea and human bronchial epithelial cells unearthed new cell types, including ionocytes enriched for CFTR expression.

Researchers found that functional assays could improve the classification of cystic fibrosis-related missense variants with variable disease expressivity.

Australian researchers call for carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy, Cosmos reports.

Carrier screens for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy detected carrier status in one in 20 individuals and led to diagnoses in seven pregnancies.

The multiplexed PCR kit will target mutations associated with cystic fibrosis that are highly prevalent in the US, and the firm is also eyeing the Middle East and Africa.

Under the terms of the deal, Fluidigm has the right to commercialize the CFTR sample prep assay for research use on its Juno automated microfluidic system.

Agena's cystic fibrosis panel includes more than 70 mutations in the CFTR gene that have been linked to the disease.

In Genome Research this week: longitudinal study of Burkholderia cenocepacia isolates from cystic fibrosis patients, long-read assembly approach, and more.

Use This Instead

Artificial tRNAs may allow cells to read through premature stop codons and treat genetic diseases, New Scientist reports.

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Publication of He Jiankui's work on gene-edited infants would raise ethical concerns for journals, Wired and others report.

The New York Times reports that evidence linking trauma in one generation to epigenetic effects that influence subsequent generations may be overstated.

ScienceInsider reports that US National Institutes of Health researchers were told in the fall they could not obtain new human fetal tissue.

In PNAS this week: skin pigmentation evolution among KhoeSan, biomarkers for dengue virus progression, and more.