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thalassemia

BGI Gets CE-IVD Mark for Thalassemia Test

The test detects mutations causing alpha- and beta-thalassemia, heritable disorders characterized by low hemoglobin levels.

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. 

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The Scan

Positive Framing of Genetic Studies Can Spark Mistrust Among Underrepresented Groups

Researchers in Human Genetics and Genomics Advances report that how researchers describe genomic studies may alienate potential participants.

Small Study of Gene Editing to Treat Sickle Cell Disease

In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms.

Gut Microbiome Changes Appear in Infants Before They Develop Eczema, Study Finds

Researchers report in mSystems that infants experienced an enrichment in Clostridium sensu stricto 1 and Finegoldia and a depletion of Bacteroides before developing eczema.

Acute Myeloid Leukemia Treatment Specificity Enhanced With Stem Cell Editing

A study in Nature suggests epitope editing in donor stem cells prior to bone marrow transplants can stave off toxicity when targeting acute myeloid leukemia with immunotherapy.