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Report Describes Novel Genomic Dataset for ALS, Including Actionable Clinical Genetic Associations for Age at Onset and Disease Progression
ANN ARBOR, Mich - Genomenon®, Inc., an AI-driven genomics company, announced that it has published a new pharma report: Key Findings from the Genomic Landscape for ALS. Also known as Lou Gehrig’s disease, ALS is a rare neurodegenerative disorder that affects about five in 100,000 individuals and causes devastating motor, cognitive, and behavioral impairment. Furthermore, clinicians and researchers are faced with a frustrating shortage of actionable information, which results in limited genetic testing and few successful drug programs.
This report describes key findings from Genomenon’s comprehensive Genomic Landscape for Amyotrophic Lateral Sclerosis (ALS), and their implications for drug discovery and development.
Genomic Landscapes are curated collections of all published genes and variants associated with disease causation and provide profound insight into complex disease mechanisms. By producing these datasets for all diseases, Genomenon supports researchers, pharmaceutical companies, and clinicians by enabling them to uncover more drug targets, streamline patient identification and diagnosis, and de-risk clinical trial outcomes.
Constructed using ACMG clinical standards, Genomenon’s AI-driven process has curated 36 genes and approximately 2,000 genetic variants associated with ALS found across the scientific literature. This includes the accurate identification of pathogenic variants, as well as those with documented functional consequences. As an example of the depth and breadth of the data assembled, Genomenon uncovered three times more pathogenic variants in the SOD1 gene compared to ClinVar, a commonly used archive of user-submitted genetic data.
Notably, this dataset reveals actionable data around age at onset and rate of progression of ALS - the implications of which are highly significant within clinical diagnostics and neurodegenerative drug development. These insights are summarized in the full report, which can be downloaded here: Key Findings from the Genomic Landscape for ALS.
“By leveraging a unique combination of AI and scientific review, our team has been able to curate the first genomic landscapes for neurodegenerative diseases at a pace and level of comprehensiveness never before achieved,” said Mike Klein, CEO of Genomenon. “These genomic landscapes provide powerful genetic insight for our pharmaceutical customers across the world.”