Unifying the odyssey: artificial intelligence for rare disease diagnosis and therapy

Mai-Lan Ho, Marinka Zitnik, Ronen Azachi, Sanjay Basu, Pranav Rajpurkar, Richard Sidlow

Abstract: To summarize current challenges in rare disease (RD) diagnosis and therapy, highlight recent advances in artificial intelligence (AI) for RDs, and propose a model future state for RD patient care.

External IDs:doi:10.1007/s12553-026-01057-y