Experts are increasingly turning to a research network called Matchmaker Exchange to find diagnoses for patients with rare genetic disease and chart new paths to discovery and even potential treatments.
By showing they could repair a single recessive mutation behind a form of hearing loss, researchers open the door to using base editing to address a broader range of conditions
Researchers find that several genetic disorders, including MUC1 kidney disease, may share a novel molecular mechanism — and identify a promising therapeutic lead.
A comprehensive single-cell analysis of airway cells in mice, validated in human tissue, reveals molecular details critical to understanding lung disease.