Genomenon | Comprehensive ALS Genomic Landscape | Implications for Drug Discovery and Development

Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease affecting approximately 1 in 50,000 people worldwide. About 10% of these cases are found to have a hereditary component, but lack of routine genetic testing for those with family history suggests that the number could be much higher. Having better clarity into which genes play a role in disease causation, and by what molecular mechanism, is the basis for precision medicine. 

In this presentation, Genomenon Founder and Chief Science Officer, Dr. Mark Kiel presents the most comprehensive genomic landscape of 36+ ALS-associated genes and a complete characterization of all disease-causing variants, assessed to clinical standards and annotated for actionability. Additionally, Dr. Kiel discusses the results of this curation effort and what it may mean for improving ALS diagnosis and treatment.