Since 2023, the Undiagnosed Hackathon has brought together People Living with Undiagnosed Diseases, their families, clinicians, geneticists, bioinformaticians, researchers, data scientists, AI specialists, brilliant minds and diagnostic tool developers from around the world.
Each Undiagnosed Hackathon is organized by Wilhelm Foundation in collaboration with local and international partners.
Together, we work side by side on the most complex undiagnosed disease cases — with one shared mission: to find new ways to solve the undiagnosed diseases that cannot be solved today.
In 2025, the Undiagnosed Hackathon became a research project. This means that any findings from the Hackathon are considered diagnostic leads and must be validated by the participant’s clinician before they can become a confirmed clinical diagnosis.
Data
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 genome sequencing
Optical Genome Mapping
Transcriptomes
Access to clinicians involved in the patient care
Sequencing data will be pre-processed by the bioinformatics team at the Radboudumc, 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.