A revealing flaw

Wolfram syndrome is a rare, fatal disease that usually stems from defects in the gene for the protein wolframin. Researchers now have a better understanding of the disease and for the first time are testing potential treatments that might slow its progress. Wolfram syndrome results in symptoms such as blindness, hearing loss, difficulty with movement and coordination, and difficulty breathing. It causes cells throughout the body to die and is usually fatal before the age of 40. Scientists have discovered the disease involves a malfunction by the endoplasmic reticulum called ER stress, and that discovery enabled them to identify several drugs that are now in clinical trials for the illness. Researchers also hope to use genetic engineering and the CRISPR gene-editing tool to correct Wolfram syndrome9s underlying defects. Because ER stress also drives more common illnesses such as Alzheimer9s disease and type 2 diabetes, Wolfram syndrome could also provide insight into the mechanisms of these diseases.