Tag: RNA

RNA proofreading mistakes drive group of autoimmune diseases

A team from Scripps Research has found a molecular cause of a group of rare autoimmune disorders in which the immune system attacks the body’s own healthy cells. The discovery, published Dec. 18 in Nature Communications, improves understanding of a protein’s role in several autoimmune disorders, including Singleton-Merten syndrome (SMS), Aicardi-Goutières syndrome, familial chilblain lupus,

New retinal ganglion cell subtypes emerge from single-cell RNA sequencing

Single-cell sequencing technologies are filling in fine details in the catalog of life. Researchers at the University of Connecticut Health Center (UConn Health) and The Jackson Laboratory (JAX) have identified 40 subtypes of retinal ganglion cells (RGCs) along with the genetic markers and transcription factors that differentiate them. Thanks to recent advances in droplet-based single-cell

Troves from a search for new biomarkers: blood-borne RNA

It’s the critical first step in treating everything from strokes to cancer: a timely and accurate diagnosis. Today, doctors often rely on biomarkers, such as cardiac troponin, the protein that appears in the blood after a heart attack, to help them figure out what’s going on with patients. But the information the biomarkers provide can

Therapeutic RNA corrects splicing defect that causes familial dysautonomia

Scientists at Cold Spring Harbor Laboratory (CSHL) have identified a therapeutic RNA molecule that corrects the error in genetic processing that leads to familial dysautonomia, a rare inherited neurodegenerative disorder. The experiments, conducted in cells sampled from patients and in a mouse model of the disease, provide proof of the team’s therapeutic concept. Familial dysautonomia,