AI Helps Treat Newborn’s Rare Disease

Why this is here: The AI tool was able to make connections across biomedical literature, identifying Klonopin as a potential treatment—something doctors might not have considered otherwise.

In San Francisco, a program at Mayo Clinic used artificial intelligence to help treat Jorie Kraus, a newborn with an ultra-rare genetic condition. Jorie experienced widespread muscle weakness affecting vital functions like breathing and heart activity.

Physicians rapidly sequenced her genome and then employed the Biomedical Data Translator—an AI tool—to search for potential treatments. The AI identified Klonopin, a common muscle relaxant, as a promising option.

After 73 days in neonatal intensive care, Jorie began to show rapid improvement with Klonopin, achieving developmental milestones previously thought unlikely. Her parents have since founded the Jorie Effect to support other families facing similar diagnoses and are sharing their story to offer hope.

Whitney Thompson notes that genomic sequencing remains unavailable to many, hindering similar quick diagnoses. Implementing this AI tool reliably across health systems also presents ongoing challenges. The work to expand access to these technologies and treatments continues.