In mice, when beneficial cancer-fighting immune checkpoint inhibitors are blocked by a mutation of the gene RAC1 (labeled A159V) the effect can be minimized with combination therapy using rapamycin, Cincinnati Children's scientists report in Science Advances.

Cold Spring Harbor Laboratory Professor Hiro Furukawa and postdoc Hyunook Kang have identified the molecular mechanisms that keep the brain’s NMDA receptors fully or partially open. These neurological ‘doorstops’ could point the way to new therapies for strokes, Alzheimer’s disease, and other neurodegenerative conditions.

Standard laboratory tests can fail to detect many disease-causing DNA changes. Now, a novel 3D chromosome mapping method can reliably reveal these hidden structural variants and lead to new discoveries. The findings on this groundbreaking tool can be found in a new study in The Journal of Molecular Diagnostics, published by Elsevier, and are poised to transform diagnostic testing and treatment for genetic disorders.