On Sunday, more than 100 medical experts from across the globe gathered in Rochester for the Mayo Clinic’s four-day “Undiagnosed Hackathon”—a pioneering event dedicated to solving rare diseases that have stumped doctors for years. The hackathon, co-hosted with Sweden’s Wilhelm Foundation, brings together scientists, clinicians, and AI specialists from 30 countries to help 29 patients, including six from Mayo Clinic, who have lived under the shadow of unexplained symptoms.
Eric Klee, co-director and professor of biomedical informatics at Mayo Clinic, described the challenge to MRPNews.org faced by these patients: “You live with this diagnostic dilemma, knowing something’s wrong, but having no idea what it is. If we can help these individuals, then, you know, it’s life changing for them.” The urgency is profound: according to the Wilhelm Foundation, over 350 million people worldwide, 75 percent of them children, suffer from undiagnosed diseases.
This marks the first time the hackathon is held in the United States, after its 2023 debut in the Netherlands. The event leverages Mayo Clinic’s state-of-the-art resources, allowing participants from under-resourced hospitals to access advanced diagnostics and collaborate with world-class teams. For the 29 selected patients, teams will re-examine previous test results, run new diagnostics, and probe gene sequencing data using cutting-edge tools to uncover answers missed by standard testing. For those present in Rochester, clinicians can also engage directly with families, gathering insights that could unlock clues.
Co-director Cherisse Marcou, an assistant professor in laboratory medicine and pathology at Mayo Clinic, explained, “These participants have had the extent of testing that’s available diagnostically, and so now we are throwing additional modalities at their samples or their specimens to try to find answers for them.” Collaboration is at the heart of the hackathon, breaking down barriers between disciplines and institutions, and bringing together diverse perspectives from high-, middle-, and low-income countries alike.
Klee emphasized the value of global teamwork: “Everybody comes with different perspectives. Everybody comes from different potentially resourced institutions or environments. Some are low- and middle-income countries. Some are high-income countries. But we all learn different things from each other.” Last year’s hackathon in the Netherlands solved more than a third of the cases in just 48 hours, with significant progress on others—a testament to the power of shared expertise.
While the hackathon itself is closed to the public, a rare disease symposium on Wednesday will be open to all. The event also invites future participation: adults with undiagnosed conditions or parents of children who remain mystery cases, despite whole genome sequencing, can nominate themselves or their child (or be nominated by a clinician) for the next hackathon.
In the battle against rare and undiagnosed diseases, Mayo Clinic’s global hackathon exemplifies the transformative potential of international collaboration and innovation, offering new hope to patients and families still searching for answers.
