Too much of a good thing, it turns out, is a concept that applies to oxygen. And researchers at the University of California at San Francisco are working on a small molecule, Hypoxystat, that can lower tissue oxygen levels and prevent damage when oxygen levels are too high. When administered to mice with the rare mitochondrial disorder Leigh syndrome, the molecule more than tripled their average lifespan.

Whole genome sequencing has substantially accelerated the pace of discovery of genes that cause rare diseases, but while this has brought the diagnostic odyssey of some patients to a conclusion, 50% to 80% remain undiagnosed after initial analysis. Researchers in the U.K. have now developed a new framework for analyzing sequence data at a cohort level. Applying this method to almost 35,000 undiagnosed rare disease patients led to the identification of 141 new disease-gene associations.

Epstein-Barr virus (EBV), a member of the herpesvirus family, is a highly common human pathogen that can remain latent in B lymphocytes after the primary infection. Although this latent state is frequently asymptomatic, in some cases, it can lead to the development of malignancies such as Burkitt lymphoma, Hodgkin lymphoma, nasopharyngeal carcinoma, and some gastric cancer subtypes.