Advancing Rare Disease Detection with AI-Powered Cellular Profiling

Rare diseases are difficult to diagnose due to limitations in traditional genomic sequencing. Wolfgang Pernice, assistant professor at Columbia University, is…

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.

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