Sildenafil – an active ingredient also marketed under the name of Viagra – improves symptoms in patients with Leigh syndrome. This has now been reported in the Cell* journal by researchers at Charité – Universitätsmedizin Berlin, together with teams from Heinrich Heine University Düsseldorf (HHU), University Hospital Düsseldorf (UKD), and the Fraunhofer Institute for Translational Medicine and Pharmacology ITMP in Hamburg. Leigh syndrome is a rare, previously untreatable metabolic disorder occurring in childhood and causing severe neurological and muscular symptoms. In a pilot study involving six patients, sildenafil showed a positive effect on the course of the disease.

Salk researchers create epigenetic atlas of cell type-specific changes in the aging mouse brain, representing eight different brain regions and 36 different cell types to show clear epigenetic differences associated with different ages. The new resource—available publicly on Amazon Web services—can be used to unravel age-related contributions to neurodegenerative diseases like Alzheimer’s, Parkinson’s, and ALS.

New research assessing the efficacy of optical genome mapping (OGM) in a group of patients with acute leukemia has demonstrated that OGM provided reliable and robust analytical performance with high sensitivity and specificity in detecting genetic alterations. In nearly 20% of cases, additional genetic variants were found that standard tests had missed. Although these current standard assays retain value in the diagnostic workflow, the study, appearing in The Journal of Molecular Diagnostics, published by Elsevier, shows that OGM offers an exceptional complement and can replace certain elements of the current testing algorithm.