Jorie Kraus, born prematurely with multiple health issues, was diagnosed with DeSanto-Shinawi syndrome (DESSH) shortly after birth. This rare genetic disorder, affecting neurodevelopment, left her with significant motor challenges and hypotonia. Despite standard treatments providing limited solutions, advancements in artificial intelligence (AI) brought new hope. Mayo Clinic researchers developed the BabyFORce platform, analyzing existing drugs for potential DESSH treatments. They identified clonazepam as a candidate, which significantly improved Jorie’s WAC gene function just days after her first dose. As a result, Jorie showed remarkable progress in physical abilities and early speech. This case exemplifies the transformative impact of AI in rare disease research, which, despite some skepticism, has potential to accelerate diagnosis and treatment in a largely overlooked area of healthcare. Families affected by rare diseases can find hope in AI-driven innovations that democratize access to necessary treatments, potentially reshaping futures for countless children.
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