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Human Pancreatic Islet Cell RNA Splice Regulation Offers Diabetes Clues

For a paper in Genome Biology, a team from the Barcelona Institute of Science and Technology and other international centers explore transcriptional regulation in pancreatic islet cells from hundreds of donor individuals. In an effort to better understand type 2 diabetes (T2D) and type 1 diabetes (T1D) risk, the investigators brought together RNA sequence and genotype profiles from 399 samples to focus in on pancreatic islet cell splicing quantitative trait loci (sQTLs) and expression QTLs (eQTLs), uncovering ties between T2D- or T1D-associated variants and apparent sQTLs affecting genes such as ERO1B and DCLRE1B, respectively. "We uncover sQTLs that show fine colocalization with genetic variants associated with T2D, discover new genetic associations, and expand the spectrum of putative gene effectors of disease susceptibility," the team writes, noting that "[w]e further reveal new candidate mediators of T1D susceptibility."

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.