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Finding a Ready Treatment for a Newly Discovered, Ultra-Rare Disease

RARECast by RARECast

Jan 22, 202600:32:40Business

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...

About This Episode

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...

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Episode Details

Published Jan 22, 2026, 00:32:40 long, audio available.