Genetic Drivers of ALS Disease Progression: Insights & Lessons Learned
- Identifying emerging risk and modifier genes through integrated GWAS, WGS, common and rare-variant analyses to illuminate new mechanisms driving heterogeneity
- Improving progression modeling by addressing limitations of ALSFRS-R, incorporating survival data, and integrating biomarkers like longitudinal neurofilament levels to better link genotype with phenotype
- Prioritizing genetically validated progression modifiers as compelling targets for disease-modifying therapies with broad patient impact