Скачать или смотреть Undiagnosed Hackathon 2024 - something must be done for the families with undiagnosed diseases!

350 million people live with an undiagnosed disease worldwide. 75% of them are children.

Genome sequencing can provide answers for 40 % of children and adults with undiagnosed diseases, but around 60 % still don't receive a diagnosis.

Wilhelm Foundation believes that there are far too many, who do not receive a diagnosis.

We need to do more... Because as long as a child or adult with an undiagnosed disease does not receive a diagnosis, there is a risk of irreversible damage and in the worst case it can lead to death.

The purpose of the #UndiagnosedHackathon2024 is trying to find new ways and collaborations to solve the undiagnosed diseases, that can’t be solved today.

Wilhelm Foundation and the Radboud University Medical Center organized the second global Undiagnosed Hackathon June 6-8, 2024 in Nijmegen, Netherlands.

In the unique Undiagnosed Hackathons, clinicians, bioinformaticians/molecular biologists, scientists, AI developers, and brilliant minds work together to tackle the most difficult unsolved undiagnosed diseases and try to solve them, but also find new ways and collaborations to solve the 60% that we cannot solve today.

The children and adults with undiagnosed diseases that have thoroughly evaluated and were accompanied by clinical summaries and phenotyping with Tip2Toe for HPO terms, short and long-read WGS, Transcriptomes, Optical Genome Mapping and clinicians involved in the patient care present.
Sequencing data was pre-processed by the bioinformatics team at the Radboud umc, as well as through partner platforms.