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.

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.