Host Lucien Graves examines how sixteen-year-old Evan Mowery spent fifteen years undiagnosed with complete color blindness and severe light sensitivity. Initial genetic testing found only half the answer—the second mutation hid in "junk DNA." Indiana University's rare disease clinic used whole-genome sequencing to diagnose achromatopsia, transforming diagnostic rates from 4% to 55%.

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This content was created in partnership and with the help of Artificial Intelligence AI

This episode includes AI-generated content.