UNDIAGNOSED HACKATHON 

Nijmegen, the Netherlands • June 7 – 8, 2024

6th June Kick off with a lunch
followed by a ”Tools” Workshop 

Organized by Department of Human Genetics, Radboudumc

and the Wilhelm Foundation

A special thank you to the IT-department at Karolinska Institute
for providing us with a powerful Hackathon server again!

Purpose

350 million people live with an undiagnosed disease worldwide. Genome sequencing can provide answers for 40 % of children and adults with undiagnosed diseases, 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 families with undiagnosed diseases who, despite the best efforts of their doctors and genetics specialists, have remained undiagnosed.

The major part of the children and adults were nominated by clinical members of the Undiagnosed Diseases Network International (UDNI) and span a range of countries, including Ghana, India, the Netherlands, Pakistan, South Africa, Sweden and USA. 

Before the event, the patients will receive a full clinical evaluation and genome and transcriptome sequencing.


Data

At the event, participants will get access to detailed clinical, phenotyping done with Tip2Toe, transcriptome, and genome data for 35 patients with undiagnosed conditions. Patient data will include:

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.

Sponsors

Support

Interested in partnering or sponsoring the event?

Please contact 
info@wilhelmfoundation.org