thalassemia

A new study of a β-thalassemia gene therapy appears promising, according to NPR.

The researchers reported correcting beta thalassemia in a mouse model via a gene editing method delivered by an intravenous injection.

The test uses multicolor high-resolution melt analysis to detect mutations that lead to a potentially fatal blood disorder particularly common in Asian populations.

The center, based in China, will focus on developing products targeting genetic conditions common in Asian populations. 

The group is testing its 42-gene panel on 1,100 individuals, and says it could be better at identifying population-specific variants than current blood typing methods. 

By Adam Bonislawski
Scientists at King’s College London and Guy’s and St Thomas’ NHS Foundation Trust have launched SpotOn Clinical Diagnostics, a firm specializing in mass spec-based diagnosis of hemoglobin disorders.

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.

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In PLOS this week: links between gut microbiome and colorectal cancer mutations, targeted sequencing uncovers genetic susceptibilities to epilepsy in Koreans, and more.