A team of genomics experts at Mayo Clinic has developed an automated system called RENEW for tracking new scientific knowledge about pathogenic genetic variants and applying it to Mayo Clinic patients with rare and undiagnosed diseases, according to a news release.
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, PhD, Bioinformatics Scientist within the Center for Individualized Medicine at Mayo Clinic.
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 healthcare provider visits and tests.
