UNDIAGNOSED HACKATHON
Mayo Clinic
September 22-24
Rochester, Minnesota
USA
#undiagnosedhackathon2025
Pioneered by Wilhelm Foundation
Purpose
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.
Data (preliminary)
At the event, participants will get access to detailed clinical information and phenotyping done with Tip2Toe, transcriptome, and genome data for the PLWUD.
The data will include:
Clinical summaries in English and phenotyping with Tip2Toe
Short and long read whole genome sequencing
Optical Genome Mapping
Transcriptomes
Access to clinicians involved in the PLWUD's care
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 participants and partners interested in performing re-analysis.
Organizers
Mayo Clinic and Wilhelm Foundation
Publication
"Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon". Read the full article in Nature Genetics
IN PARTNERSHIP with
Sponsors
Support
Interested in partnering or sponsoring the hackathon?
Please contact
info@wilhelmfoundation.org