Groundbreaking genetic and epigenetic advances offer new therapeutic avenues and insights into disease mechanisms. Hubrecht Institute researchers report a method to reactivate silenced genes by repositioning enhancers using CRISPR, opening paths for blood disorder treatments. Baylor College of Medicine combines exome sequencing and machine learning to identify novel genes linked to systemic sclerosis risk. Meanwhile, studies on epigenetic regulation reveal DNA methylation’s critical role in autoimmune diseases and hepatocellular carcinoma progression, emphasizing the potential of epigenetic markers as diagnostic and therapeutic targets.