• By Susan Murphy

Science Saturday: Mayo Clinic develops automated system to accelerate diagnoses for patients with rare diseases

February 26, 2022
a medical illustration of gene disease mutation

Mayo Clinic researchers are working to accelerate the diagnoses of rare diseases and renew hope for patients whose symptoms have defied an explanation ― sometimes for years or even decades.   

The team of genomics experts has developed an automated system called RENEW for tracking new scientific knowledge from around the world of pathogenic genetic variants and applying it to Mayo Clinic patients with rare and undiagnosed diseases. RENEW stands for reanalysis of negative whole-exome/genome data. 

"We're seeing dramatic growth in knowledge around what causes genetic disease, so we wanted to create a system to consistently track these discoveries," says Eric Klee, Ph.D., a Mayo Clinic bioinformatics scientist within the Center for Individualized Medicine.   

An estimated 30 million people in the U.S. have a rare disease, which can be chronic, debilitating and even deadly. Many rare diseases are caused by mutations in genes or chromosomes ― either passed from a parent or occurring randomly in a single person. In some instances, patients with rare diseases search for answers for 10 years or longer, propelled through a marathon of health care provider visits and tests.  

Read the rest of the article on the Center for Individualized Medicine blog.

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Araeya Sell, rare disease patient