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
Read this article about the first Undiagnosed Hackathon in 2023
by German Demidov
read here
Purpose
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 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 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:
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.
Sponsors
