AI Accelerates Rare Disease Diagnosis and Treatment at Mayo Clinic

Rare diseases, defined as conditions affecting fewer than 200,000 people, collectively impact nearly 30 million Americans. Yet for those suffering, the path to diagnosis typically spans four to five years, delaying critical treatment. In response, Mayo Clinic is leveraging artificial intelligence (AI) and genetic data to revolutionize rare disease diagnostics and improve patient care.

Genetics: Unlocking the Mystery of Rare Diseases

Rare diseases often leave behind genetic footprints—clues embedded in an individual’s DNA. Genetic testing can identify variants associated with 80% of rare diseases, according to the National Institutes of Health.

At the Mayo Clinic Center for Individualized Medicine, groundbreaking programs are advancing genetic research:

• Tapestry DNA Sequencing Study: This initiative involves exome sequencing of 100,000 patients to assess how integrating DNA results into health records can enhance care.
• Program for Rare and Undiagnosed Diseases: A team of genetic counselors and researchers integrates genomic testing into patient evaluations, helping identify rare diseases in 15% of second-opinion cases.

“Definitive diagnosis is the first and most critical step toward finding effective therapeutics,” says Dr. Filippo Pinto e Vairo, director of the program.

AI: A Game-Changer in Rare Disease Diagnostics

AI is transforming how clinicians interpret vast amounts of genetic data, including entire genomes made up of three billion DNA base pairs. This cutting-edge technology enables faster, more focused analysis of genetic variants tied to specific symptoms.

For instance, in cases of suspected kidney-related illness, AI narrows its focus to 300–400 kidney-related genes instead of analyzing all 20,000 genes in the human genome. This approach acts like a "magnet in a haystack," drastically reducing the time needed to identify actionable insights.

“Advancements in AI give us the tools to process enormous datasets quickly and efficiently, accelerating diagnoses and improving patient outcomes,” notes Dr. Pinto e Vairo.

Looking Ahead: Personalized Care and New Hope

By combining AI-driven insights with decades of rare disease expertise, Mayo Clinic aims to provide patients with faster diagnoses and access to more effective treatments. These efforts not only shorten the diagnostic journey but also empower researchers and clinicians to better understand complex illnesses.

For researchers interested in collaborating, the Tapestry genomic database offers a wealth of information to explore. Patients and healthcare providers can also contact the Mayo Clinic’s Center for Individualized Medicine to learn more about clinical studies and trials aimed at advancing rare disease care.

Through AI and genetic innovation, Mayo Clinic is forging a new path for rare disease research—offering hope to millions waiting for answers.