
Using AI and Longitudinal Data to Transform Rare Disease Care
May 7, 2026 - 00:19:21
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When a toddler with a neurodevelopmental delay, poor muscle tone, and no hair came to Caleb Bupp’s genetics clinic, it led not only to the discovery of a new, ultra-rare disease, but the identification of a potential tre...
Finding a Ready Treatment for a Newly Discovered, Ultra-Rare Disease is an episode from RARECast by RARECast. When a toddler with a neurodevelopmental delay, poor muscle tone, and no hair came to Caleb Bupp’s genetics clinic, it led not onl...
This episode belongs to RARECast.
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Published Jan 22, 2026, 00:32:40 long, audio available.