Advancing Rare Disease Detection with AI-Powered Cellular Profiling

Originally published at: Advancing Rare Disease Detection with AI-Powered Cellular Profiling | NVIDIA Technical Blog

Rare diseases are difficult to diagnose due to limitations in traditional genomic sequencing. Wolfgang Pernice, assistant professor at Columbia University, is using AI-powered cellular profiling to bridge these gaps and advance personalized medicine. At NVIDIA GTC 2024, Pernice shared insights from his lab’s work with diseases like Charcot-Marie-Tooth (CMT) and mitochondrial disorders. His team developed…