From Early Diagnosis to Target Discovery and Clinical Translation
Watch the official Horizon Europe DREAMS project webinar exploring how Artificial Intelligence (AI) and Machine Learning (ML) are transforming rare neuromuscular disease (NMD) research from early diagnosis to target discovery and clinical translation. Dr. Rubal Ravinder, Biochemistry Machine Learning Engineer at Kantify, presents the results of the collaboration between Kantify and the French Centre for Stem Cell studies in target discovery for a rare neuromuscular disorder: LGMD-R2. She also introduces the European Research project on rare neuromuscular disorders which leverages Kantify's AI platform Sapian: DREAMS.
Volv Global demonstrates how machine learning and real-world health data mining drastically reduce diagnostic delays for undiagnosed patients. By leveraging proprietary AI algorithms for disease trajectory modeling and phenotypic screening of electronic health records (EHR), Volv Global enables early detection and automated patient finding for rare neuromuscular disorders.
3billion presents its AI-driven clinical genomics platform, including the EVIDENCE AI engine, designed for high-throughput rare disease diagnosis. By automating pathogenic variant prioritization and interpretation across whole genome sequencing (WGS) data, 3billion speeds up definitive molecular diagnoses, helping clinicians and researchers rapidly decode complex genetic variants in rare neuromuscular conditions.
Dr. Rubal Ravinder highlights Kantify's proprietary Sapian AI engine (Sapian.Target and Sapian.Hit) for AI-driven small molecule discovery and drug repurposing. She explains how Kantify demonstrates leading technology in non-structure-based small molecule discovery and phenotypic target discovery, identifying shared pathophysiological mechanisms across rare neuromuscular disorders and using predictive ADMETox modeling to fast-track viable clinical candidates. Last, but not least she presents initial results 1. in orthogonal target discovery for LGMD-R2 and 2. in drug discovery for an anonymous target, with best-in-class performance.
DREAMS (Drug Repurposing with Artificial Intelligence for Muscular disorders) is a European consortium accelerating the discovery and clinical translation of novel therapeutics for rare neuromuscular disorders through AI, stem cell models, and cross-indication target sharing. Led by Dr. Xavier Nissan from CECS, DREAMS is tackling 5 different rare neuromuscular disorders, with the ambition to discover novel shared targets and promising drugs. Kantify's AI platform Sapian is powering DREAMS when it comes to target discovery and prediction of repurposed or new drugs.