Artificial intelligence is revolutionizing rare disease diagnosis, cutting diagnostic timelines from years to weeks. Rare Disease Day on February 28 highlights challenges faced by over 300 million people worldwide living with more than 7,000 distinct rare conditions.
Scientists in Shanghai have developed DeepRare, an AI system that diagnoses rare diseases with 79% accuracy, outperforming experienced doctors in head-to-head testing. The system is now being used by clinicians at over 600 institutions worldwide.
DeepRare, a multi-agent AI system, demonstrated exceptional performance in diagnosing rare diseases across 2,919 conditions, achieving 70.6% accuracy with genomic data and outperforming existing clinical tools in international testing.
Researchers in China and Australia have identified distinct mechanisms to improve cancer immunotherapy effectiveness, addressing why up to 60% of patients fail to respond to immune checkpoint blockade therapy.
