Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease, is a fatal neurodegenerative disorder caused by the relentless loss of motor neurons. The IGM’s precision medicine initiative in ALS and related motor neuron diseases seeks to elucidate genetic causes of disease, identify correlations between genetic mutations and clinical manifestations, and enable genetically-stratified therapeutic trials. To accomplish these goals, we will sequence all patients seen at NYP/Columbia and collaborating clinics, combining thoughtful genomic interpretation with equally meticulous clinical phenotyping. Currently, causative mutations are found in approximately one in five patients and this proportion will increase as we gain further genetic understanding of this disease.
The Precision Medicine Program at Columbia University will also lead a 10-site international collaborative effort with similar goals, co-sponsored by the ALS Association and Biogen Idec. This project builds on the work of the Biogen-sponsored ALS Sequencing Consortium that recently used large-scale whole exome sequencing to identify TBK1 as an ALS gene.