RENEW: A Revolutionary Tool in Diagnosing Rare Diseases
Rare diseases affect millions worldwide, presenting significant challenges in accurate diagnosis. In Brazil alone, approximately 13 million people suffer from these conditions. These diseases often have obscure origins, potentially stemming from genetic, immunological, or infectious sources. Among the 8,000 cataloged rare diseases, well-known examples include amyotrophic lateral sclerosis (ALS), cystic fibrosis, and muscular dystrophy.
One of the persistent issues for patients with rare diseases is the extended and often inconclusive diagnosis process, even after numerous tests. However, a new technology developed by researchers at the Mayo Clinic – a leading medical research institution in the United States – aims to expedite and enhance the accuracy of diagnosing rare diseases, particularly those with genetic origins.
The innovative system, known as RENEW (REanalysis of NEgative Whole-exome/genome data), constantly and automatically compares patients’ genetic sequencing information with the latest scientific discoveries and studies published globally. By cross-referencing these data, RENEW attempts to match patients’ genetic profiles with recent research findings.
First introduced two years ago, RENEW has recently shown promising results. In a study published in the scientific journal Human Genetics, Mayo Clinic researchers demonstrated that RENEW helped diagnose 63 patients out of 1,066 cases that previously had no defined cause. Although the number may seem small, it is significant given the rarity and complexity of these diseases. As Alejandro Ferrer, one of the study’s coordinators, explained, "Each diagnosis facilitated by RENEW means progress towards providing answers and hope for those living with the complexities of a rare disease."
The efficiency of RENEW is noteworthy. The complete analysis of each patient took between 10 seconds and 1.5 hours, averaging just 20 seconds to process data for 5,741 prioritized genetic variants. In contrast, manual data cross-referencing can take weeks.
Two brothers are among the beneficiaries of this technology. Since childhood, they experienced severe symptoms, including head and tongue deformities, reduced muscle tone, brittle bones, vision difficulties, and recurring infections. Despite strong suspicions of a genetic abnormality, traditional tests failed to identify the cause. A decade later, RENEW identified a variant in the ZBTB7A gene as the culprit, a condition discovered by Norwegian researchers in 2021.
The Mayo Clinic scientists are now working to further refine this automated diagnostic technology. Eric Klee, a leading researcher on the project, noted that RENEW will soon interface with diagnostic systems from other research centers to extend its reach. "We are evaluating how to integrate the outputs of RENEW with genetic variant interpretation systems," Klee stated. "RENEW could then aid in the automated identification of highly suspect genetic variants linked to specific diseases, following guidelines from organizations like the American College of Medical Genetics and Genomics."
Klee highlighted the development of numerous similar software tools, predicting significant advancements in the coming years as these systems increasingly interconnect. "In the past decade, we have seen substantial progress in our understanding of these diseases," he said. "Genetic causes underpin thousands of these conditions. With this knowledge, RENEW can evolve to analyze more complex genetic alterations and draw on an ever-expanding array of information sources."
The potential of RENEW marks a critical step forward in the fight against rare diseases, promising quicker and more precise diagnoses and offering new hope to millions of affected individuals and their families.
For more information about the breakthrough technology, visit the Mayo Clinic’s official website.
