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 to find new ways and collaborations to solve undiagnosed diseases that have not been solved (yet!).

Before the event, participants are selected, their samples are collected, genetic sequencing tests are performed, and data is generated. During the event, the Undiagnosed Hackathon team will analyze the data and work collaboratively to find diagnoses.

The event brings together collaborators from around the world to address the challenges of undiagnosed diseases. Guided by the principles of equality, inclusivity, and innovation, the Undiagnosed Hackathon fosters collaboration without bias or hierarchy. Our mission is to empower a world-wide community of engaged rare and undiagnosed disease researchers, accelerate diagnoses, and advance scientific discovery for individuals living with unexplained medical conditions.

We are excited to invite you to apply to be a collaborator at the 2025 Undiagnosed Hackathon, hosted by the Wilhelm Foundation in collaboration with Mayo Clinic. This event 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.

During the 2025 event, 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.  

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. 

We are committed to creating an enriching and collaborative experience, and we believe your expertise will be a valuable contribution to the success of the Undiagnosed Hackathon. The event is free to attend, and food will be provided by the organizers. Please note, collaborators will be responsible for their own travel and lodging; however, financial support may be available for those in need of financial assistance. We also plan to host a virtual workshop for collaborators prior to the event to share more about available technologies, data, and analysis tools that will be available. Additional details and logistics will be provided if you are selected to attend the event. 

To apply, please visit the link below and complete the application. As there are a limited number of spots available, we encourage you to submit your application as soon as possible, no later than May 23, 2025. We will consider applications on a rolling basis after that date, as space allows. Collaborators will be selected by June 15, 2025 and will be notified via email regarding a decision. 

Collaborator Application Link: https://forms.gle/46nSNuAXPYvLYwjp7

We look forward to hearing from you and sincerely hope you can join! If you have any questions, please email the Undiagnosed Hackathon Team - Wilhelm Foundation or Mayo Clinic.

Start thinking about participants! Do you know a child or adult who remains undiagnosed, whether they have undergone genome sequencing (GS) or exome sequencing (ES) or have never had genetic testing? If so, they could be a strong candidate to participate in the Undiagnosed Hackathon by receiving diagnostic workups and the unique opportunity to seek a diagnosis. Details for how to nominate a participant will be shared with you very soon. In the meantime, we encourage you to start identifying potential participants you would like to nominate and seek their written or verbal permission to share their personal information with the Undiagnosed Hackathon team. Additional information for how to nominate a participant will be shared soon.

If your nominee is selected to participate in the 2025 Undiagnosed Hackathon, you may be eligible to attend the event as a collaborator (more information about the application process will be shared very soon). Collaborators play a significant role in the event by working to actively solve cases and acting as representatives to provide history on their participants and advocate on their behalf.