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Rare Recessive Disease Insights Found in Individual Genomes

A Baylor College of Medicine-led team outlines a recurrent deletion-based approach for teasing out the genes and processes behind autosomal recessive conditions for a paper in Genome Medicine. By mapping and quantifying recurrent genomic deletions that stem from non-allelic homologous recombination (NAHR) in individual genomes, the researchers predicted such deletions across populations and came up with a related score for gauging the recessive disease influences of NAHR-related deletions. "We have demonstrated through computational modeling that NAHR-mediated recurrent genomic deletions contribute to a major fraction of burdens for recessive disease traits," they write, noting that "systematic sequencing of individuals carrying NAHR-mediated recurrent genomic deletions is a promising genomic strategy for discovery and characterization of autosomal recessive disease trait genes and alleles."

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.