Genetics

This blog post provides a critical scientific overview of recent research exploring the contribution of rare and low-frequency genetic variants to multiple sclerosis susceptibility. Drawing on large international cohorts, family-based studies, and functionally informed candidate gene analyses, it highlights how rare variants complement known common risk loci and offer new insights into immune, metabolic, and neurodegenerative pathways involved in disease pathogenesis. Particular attention is given to methodological challenges, phenotype-specific discoveries, and the importance of functional validation, underscoring how rare-variant research is reshaping our understanding of the complex genetic architecture of multiple sclerosis.