Multiomics approach reveal novel insights in FUS driven Juvenile Amyotrophic Lateral Sclerosis: a family quartet analysis

We have identified a novel de novo variation in FUS gene in a sporadic juvenile ALS patient. FUS is an RNA-binding protein actively involved in various aspect of nucleic acid metabolism. We performed RNA-seq to identify altered transcriptome in juvenile ALS. Overall design: Identify differentially expressed genes from RNA-seq data in proband compared to family quartet (Father, mother, sister) and control (an unrelated age and gender matched healthy control)