How AI helped find a treatment for a newborn with an ultra rare disease

Jorie Kraus, born with an ultra rare genetic disorder, experienced severe developmental challenges including muscle weakness and vocal impairments.
At Mayo Clinic, her genome was sequenced, revealing a rare condition caused by a gene deletion on chromosome 10.
An artificial intelligence tool known as Biomedical Data Translator identified Klonopin, a widely available muscle relaxer, as a potential treatment for her condition in a massive database.
The drug rapidly alleviated many of her symptoms, drastically improving her mobility and speech within weeks.
Jorie’s parents emphasize the potential for scaling genomic sequencing and AI tools to aid other children with rare conditions.
The successful treatment of Jorie has led her parents to start the Jorie Effect, an organization that supports children with similar genetic disorders.
Another child with a similar genetic condition experienced significant improvement after being prescribed Klonopin via the same diagnostic protocol.
The family’s public sharing of Jorie’s story aims to spread hope and push for advancements in medical technology and treatment availability for rare genetic disorders.

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