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Developmental Delays and DNA Deletions

A DNA deletion can lead to cognitive problems, including autism, developmental delays, and mental retardation, reports MIT's Technology Review. A team led by Evan Eichler screened 5,218 people with autism, congenital abnormalities, or mental retardation and found that 25 of them had similar 1.35 megabase deletions; within a similarly-sized screen of healthy people, no one had that deletion. The deletion includes seven genes, one of which is involved in heart development and another in the development of the eye's lens. The results are reported online at the New England Journal of Medicine.


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.