beta-thalassemia | GenomeWeb

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."

In Science this week: metagenomic-based technique for determining protein structure, and more.

An academic laments the rise of narcissism in the sciences, the Guardian reports.

Outgoing FDA commissioner Robert Califf writes in an editorial that the agency can help boost innovation.

The Trump transition team has asked NIH Director Francis Collins to remain at his post, though it's unclear for how long that will be.