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thalassemia

Putting Expanded Carrier Screening Into Practice Requires Considerations to Avoid Pitfalls
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At an AMP virtual meeting workshop, a Mayo Clinic lab director offered advice on what diseases to include, how to handle VUSs, and other considerations for ECS.

Yale-Led Gene Editing Study Uses PNAs to Correct Hemoglobin Gene in Human CD34 Cells, Mice
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The researchers reported correcting beta thalassemia in a mouse model via a gene editing method delivered by an intravenous injection.

Chinese Group Develops Multicolor Melt Curve Test for Non-Deletional Alpha-Thalassemia Mutations
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The test uses multicolor high-resolution melt analysis to detect mutations that lead to a potentially fatal blood disorder particularly common in Asian populations.

Veritas Genetics Establishing Asian R&D Center

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

UW, Bloodworks Northwest Team Designs NGS-based Blood Typing Panel
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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. 

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The Scan

Lung Cancer Response to Checkpoint Inhibitors Reflected in Circulating Tumor DNA

In non-small cell lung cancer patients, researchers find in JCO Precision Oncology that survival benefits after immune checkpoint blockade coincide with a dip in ctDNA levels.

Study Reviews Family, Provider Responses to Rapid Whole-Genome Sequencing Follow-up

Investigators identified in the European Journal of Human Genetics variable follow-up practices after rapid whole-genome sequencing.

BMI-Related Variants Show Age-Related Stability in UK Biobank Participants

Researchers followed body mass index variant stability with genomic structural equation modeling and genome-wide association studies of 40- to 72-year olds in PLOS Genetics.

Genome Sequences Reveal Range Mutations in Induced Pluripotent Stem Cells

Researchers in Nature Genetics detect somatic mutation variation across iPSCs generated from blood or skin fibroblast cell sources, along with selection for BCOR gene mutations.