UNDIAGNOSED HACKATHON 

Nijmegen, the Netherlands • June 7 – 8, 2024

Organized by Department of Human Genetics, Radboudumc

and the Wilhelm Foundation


See our 3 min video about the Undiagnosed Hackathon 2023

click here

Read this article about the first Undiagnosed Hackathon in 2023
by German Demidov
read here 

Purpose

Genome sequencing can provide answers for many families, but around 60% of patients 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 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 patients were nominated by clinical members of the Undiagnosed Diseases Network International (UDNI) and span a range of countries, including Argentina, Ghana, India, the Netherlands, Pakistan, South Africa, Sweden and USA. 

Before the event, the patients received 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.

Venue

Radboudumc, Nijmegen, the Netherlands

Accommodations

To be announced

Agenda

To be announced

Support

Interested in partnering or sponsoring the event?

Please contact support@undiagnosedhackathon.org