Rare diseases, a group of more than 7,000 conditions, impact roughly 4 to 6 percent of the global population — about 300 million people worldwide. Often shrouded in diagnostic uncertainty, many patients face years of misdiagnosis even with advanced testing. As today, February 28, is Rare Disease Awareness Day, we have focused our news items on that topic.
Mayo Uses AI to Speed Up Rare Disease Diagnosis
The Mayo Clinic is expanding its efforts to help patients with undiagnosed and rare diseases by integrating AI-powered diagnostics and genetic counseling into its Program for Rare and Undiagnosed Diseases.
Since 2019, the program has analyzed genetic data from more than 3,200 patients, using AI to detect hard-to-spot genetic mutations and match individuals to existing treatments that could be repurposed for their conditions. Beyond diagnosis, Mayo is working to use its rare disease findings to improve clinical trial recruitment and accelerate the development of targeted therapies for patients.
"Every breakthrough we make brings us closer to the day when rare diseases once thought untreatable can be managed or even cured," said Timothy Curry, associate director of Practice Implementation at Mayo's Center for Individualized Medicine, in a news release.
At a separate Rare Disease Day event hosted by Mayo, Durhane Wong-Rieger, PhD, President of the Canadian Organization for Rare Disorders, noted that even with advances in AI that help with patient identification, many individuals remain undiagnosed.
“I hear over and over again from our children’s hospitals — 90 percent of the kids in my emergency room are kids with undiagnosed rare conditions,” she said during the event. “The challenge is trying to identify some of these patients, especially when we do have treatments, but they aren’t getting diagnosed early enough or sometimes at all.”
Researchers Discover Dozens of New Rare Disease Gene Links
A landmark study published in Nature reports the identification of dozens of previously unknown genetic links to rare diseases, potentially solving cases that have evaded diagnosis for years.
Researchers from Newcastle University, UCL, and Queen Mary University of London analyzed genetic data from the 100,000 Genomes Project, examining nearly 35,000 individuals and their family members. Their analysis identified variants in 69 genes not previously linked to rare diseases. The discoveries focus on rare forms of diabetes, schizophrenia, epilepsy, Charcot-Marie-Tooth disease and eye abnormalities.
"For patients living with rare diseases, where there is no known genetic basis, this work shows how the scale of national genome sequencing projects can provide answers," said Neil Rajan, MD, PhD, Professor of Dermatogenetics at Newcastle University, in a news release. “The ‘diagnostic odyssey’ is a challenge that is faced by the rare disease community, and the discovery of new genes is a key step towards improving this for patients.”
Simple Blood Test Improves Mitochondrial Disorder Diagnosis
A simple blood marker now helps doctors identify rare mitochondrial disorders with much greater reliability, offering clearer answers for patients who often face years of inconclusive testing.
Researchers found that measuring the protein GDF15 increases the accuracy of identifying mitochondrial DNA-related disorders by 14-fold. Patients with elevated levels had about 41 percent odds of having the condition compared to less than 3 percent for those with normal levels.
The discovery, noted in the Rare Diseases Clinical Research Network’s January report, also highlights how cells beneath the esophagus lining contribute to symptom severity in eosinophilic esophagitis, explaining why some patients struggle more with swallowing difficulties.
Additionally, women with Charcot-Marie-Tooth disease report more life impact than men despite similar clinical measurements, an insight that will shape how researchers design upcoming treatment trials for this nerve condition.
NIH-FDA Postpone Annual Rare Disease Day Event
The annual FDA-NIH Rare Disease Day event, typically held each February, has been postponed indefinitely.
After "much consideration," organizers announced the decision to reschedule the two-day event originally planned for February 27-28. The brief statement offers no specific reason for the delay, noting only that the agencies want to "make sure we can fully focus on the event to make it the best that it can be."
The postponement impacts a major gathering that brings together researchers, clinicians, patients, caregivers and advocacy groups to share advances in diagnostics and therapeutic development. The event typically highlights federal initiatives designed to accelerate rare disease research and reduce regulatory barriers while maintaining safety standards.
The NIH's National Center for Advancing Translational Sciences indicated the event will be rescheduled "in the coming months," though no specific timeline was provided.