AI opens new paths for treating rare diseases

Developing effective therapies for rare diseases is challenging. That’s because the small number of people with a particular rare disease limits the ability to do large-scale studies and can make it difficult to secure research funding. Of the approximately 8,000 rare diseases, up to 90% have no specific treatment.

Mayo Clinic experts are addressing the research gap with new tools enhanced by artificial intelligence (AI), using this emerging technology to tailor treatments based on a person’s individual genetic profile.

Treatment for a rare disease typically relies on understanding the disease’s cause. Since several rare diseases involve changes in function within a single gene, the ability to sort through genetic information is especially important. This detective work has been made more possible with AI.