The Undiagnosed Hackathon
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 is provided by the organizers. Collaborators are responsible for their own travel and lodging.
We host a virtual workshop for collaborators prior to each event to share more about the technologies, data, and analysis tools that will be available. Additional details and logistics are provided to collaborators selected to attend.
Mission and Guiding Principles
Our mission is to unite global minds in the fight against undiagnosed diseases by fostering international collaboration, innovation, and knowledge-sharing. Through cutting-edge testing, advanced data analysis, and open exchange of expertise, we strive to empower a worldwide community of engaged undiagnosed disease researchers, accelerate diagnoses, and advance scientific discovery for People Living with Undiagnosed Diseases.
The Undiagnosed Hackathon is guided by a set of principles that every collaborator carries into the room.
Individuals, not patients. We are working for the betterment of individuals living with undiagnosed diseases — not patients.
International collaboration. We unite collaborators from around the world, without bias regarding gender, race, religion, ethnicity, economic status, or any other characteristic.
Equality. We treat every collaborator as an equal, working together without titles, degrees, affiliations, or elevated status.
A holistic approach. We keep our focus on the individuals living with undiagnosed diseases, treating them as individuals with needs, feelings, fears, and hopes.
Mission focused. The Undiagnosed Hackathon is not for the self-promotion of any individual, department, business, institution, or other entity.
Collaboration. Collaborators freely share expertise, resources, and abilities to promote the mission of the Undiagnosed Hackathon.
Publications
2026, Rare: "From unsolved to diagnosed: The Undiagnosed Hackathon and functional validation establish RRAS2-related Noonan syndrome". Read the full article in Rare.
2026, Rare: "Report of two cases of snRNA gene RNU4-2 related syndromic intellectual disability from Southeast Asia". Read the full article in Rare.
2025, Rare: “Undiagnosed Hackathons: Ending the diagnostic odyssey for individuals with rare diseases.” Read the full article in Rare.
2025, American Journal of Medical Genetics Part A: “Undiagnosed Hackathon Ends Diagnostic Odyssey in a Patient With DNA2-Related Rothmund–Thomson Syndrome.” Read the full article here.
2024, Nature Genetics: “Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.” Read the full article in Nature Genetics.
Interested in partnering or sponsoring?
The Undiagnosed Hackathon is free for collaborators and for the families — and that is only possible thanks to our partners and sponsors. Sponsors help cover what makes the event work, from sequencing and analysis to the dinners where trust and collaboration are built, and sponsoring companies are warmly welcome to bring colleagues and demonstrate their tools during the Undiagnosed Hackathon. If you would like to be part of finding new ways to solve the undiagnosed diseases that cannot be solved today, we would love to hear from you: undiagnosedhackathon@wilhelmfoundation.org.
