Researchers from Children’s Hospital of Philadelphia (CHOP) affiliated with the CHOP Epilepsy Neurogenetics Initiative (ENGIN) have compiled a complete genetic and clinical analysis of more than 400 individuals with SCN2A-related disorder, which has been linked to a variety of neurodevelopmental disorders, including epilepsy and autism. By linking clinical features to genetic abnormalities in a standardized […]
Research team profiles histone mutational landscape of human cancers
Researchers in the Muir Lab at Princeton University’s Department of Chemistry have completed the first comprehensive analysis of cancer-associated histone mutations in the human genome, featuring both biochemical and cellular characterizations of these substrates. Their study reports that histone mutations that perturb nucleosome remodeling may contribute to the development or progression of a wide range […]
Shifts in pharma’s 2020 digital health landscape
AI-assisted cardiac ultrasound guidance software receives De Novo clearance HIMSSCast: Digital Health around Boston The pursuit of a 10X better value-based care enablement: Tactics for entrepreneurs to accelerate transition from FFS to FFV Source: Read Full Article