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MedGenome KaryoSeq

MedGenome has launched KaryoSeq, a clinical next-gen sequencing test for the detection of chromosomal abnormalities including trisomies 13, 18, and 21 and microdeletions larger than 2 Mb. The test, which is performed in India and available in this as well as several other countries, is recommended for individuals with a suspected or confirmed genetic disorder and those at increased risk of carrying a chromosomal abnormality. It can be used in both the prenatal and postnatal setting but its major application is anticipated to be in the prenatal area, according to the company.

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.