350 million people live with an undiagnosed disease worldwide. Genome sequencing can provide answers for 40% of the People Living With Undiagnosed Disease (PLWUD) but around 60% still don’t receive a diagnosis.

The purpose of the Undiagnosed Hackathon is trying to find new ways and collaborations to solve the undiagnosed diseases, that can’t be solved today.

In this unique event multidisciplinary teams of clinicians, bioinformaticians/molecular biologists, scientists, developers,
AI specialists and brilliant minds will work together to tackle the most difficult diseases.

The event centers around the PLWUD who, despite the best efforts of their doctors and genetics specialists, have remained undiagnosed.

The PLWUD will be nominated by clinicians worldwide.

The Undiagnosed Hackathon, hosted by Wilhelm Foundation in collaboration with Mayo Clinic will take place September 21-23, 2025 at Mayo Clinic in Rochester, Minnesota, United States.

The Undiagnosed Hackathon’s main event will occur on September 22-23, with pre-activities and a welcome dinner kicking off the experience on September 21 and a concluding Rare Disease Symposium held on September 24.

This event brings together a world-wide community of individuals—clinicians, bioinformaticians, molecular biologists, scientists, developers, AI specialists, and more—to solve complex cases for people living with undiagnosed conditions. As a collaborator, you would play a key role in solving cases and may act as a participant representative to provide their medical history and advocate on their behalf.

During the 2025 Undiagnosed Hackathon, we plan to analyze data from 30 participants, with the goal of providing answers and potential diagnoses where none have been found before.

Over two days, collaborators will have the opportunity to engage closely with detailed clinical information, advanced genomic and transcriptome data, and state-of-the-art phenotyping tools to help examine participant cases and look for answers.  

Sequencing data will be pre-processed by the bioinformatics team as well as through partner
platforms.

Raw data is available for 3 months after the event for collaborators interested in
performing re-analysis.