beta-thalassemia

This Week in PNAS

In PNAS this week: work toward a CRISPR/Cas9-based approach to treat beta-thalassemia or sickle cell disease, bacteriophages uncovered in human stool, and more.

This Week in Nature

In Nature this week: Exome Aggregation Consortium analysis of some 60,000 exomes, and more.

Scientists introduced an indel to a promoter region to mimic a benign, naturally-occurring mutation that activated fetal hemoglobin production.

Though the edit was made in non-viable zygotes, the study wades into human germline engineering, a topic of great consternation for the CRISPR/Cas9 research community.

Alnylam Pharmaceuticals this week released new preclinical data from programs in beta-thalassemia and erythropoiesis — indications from which the company could select its newest pipeline candidate.

Scientists from China's Xiamen University and a startup company called Xiamen Zeesan Biotech have submitted the test to Chinese regulatory officials for approval as a widespread prenatal diagnostic and screening tool for β-thalassemia.

Showing that the entire fetal genome is present in maternal plasma is important because "then one might be able to scan the entire fetal genome for genetic disorders using this noninvasive approach."

The Seattle Times writes that pharmacogenomics testing can help choose medications that may work best for people with depression.

Researchers report that deleting one gene from butterflies affects their wing coloration patterns, according to the Washington Post.

In PNAS this week: genome sequencing of weevil symbionts, retinoid X receptor deletion in lung cancer metastasis, and more.

Sequencing could help combat foodborne illnesses, according to a blog post by Food and Drug Administration officials.