Genetics

Despite the success of genome-wide association studies in identifying common genetic risk factors for multiple sclerosis, much of the disease’s heritability remains unexplained. This blog post explores a recent targeted sequencing study in an Italian population that shifts the focus toward rare and low-frequency genetic variants. By applying gene-based burden analyses and functional validation, the research uncovers a novel association between disruptive variants in the poorly characterized gene EFCAB13 and multiple sclerosis risk, offering new insights into the genetic and biological mechanisms that may contribute to this complex autoimmune disease.