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Genetics and Functional Genomics of Multiple Sclerosis: From Risk Loci to Disease Mechanisms
Genetics and Functional Genomics of Multiple Sclerosis: From Risk Loci to Disease Mechanisms

This blog post explores how advances in genetics and functional genomics have transformed scientific understanding of multiple sclerosis, a complex immune-mediated neurodegenerative disease. Drawing on Kim and Patsopoulos’ review, it summarizes the evidence for genetic predisposition, the role of HLA and non-HLA susceptibility loci, insights from genome-wide association studies, rare variant analyses, ancestry-specific findings, and shared genetic architecture with other autoimmune diseases. It also discusses how functional genomics is helping researchers move beyond statistical associations toward causal mechanisms, cell-type-specific biology, and potential therapeutic implications.

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