Wilhelm Foundation arranged the first global Undiagnosed Hackathon together with Karolinska UDP and PhenoTips at Karolinska, Stockholm Sweden, June 17-18, 2023.
Wilhelm Foundation and the Radboud University Medical Center are organizing the Second global Undiagnosed Hackathon June 7-8, 2024 at the Radboud University Medical Center in Nijmegen, The Netherlands.
In this unique event multidisciplinary teams of clinicians, bioinformaticians/molecular biologists, scientists, and AI developers will work together to tackle the most difficult unsolved undiagnosed diseases.
The patients will be thoroughly evaluated and will be accompanied by clinical, WGS, RNA seq, and long-read sequence data. The purpose of the Hackathon is trying to solve some unsolved cases and to find new ways and collaborations to solve the undiagnosed diseases we can’t solve today.
Watch the this short video about last year's Undiagnosed Hackathon
Today, about 40% of undiagnosed diseases can be solved with the help of Whole Genome Sequencing (WGS), which means that 60% do not receive a diagnosis!
We believe that there are far too many, who do not receive a diagnosis. We also know that 350 million people in the world have an undiagnosed disease. 75% of them are children.
We need to do more... Because as long as a child or adult is undiagnosed, there is a risk of irreversible damage and in the worst case it can lead to death.
That's why Wilhelm Foundation together with Karolinska-UDP, Karolinska Hospital/Institute and PhenoTips, arranged the world's first Undiagnosed Hackathon 2023 and invited prominent geneticists, bioinformaticians, molecular biologists and data developers from all over the world.
A total of 95 participants from 28 countries and six continents, together for 48 hours they would try to solve the 13 undiagnosed diseases that 11 children and 2 adults have.
The children and adults were undiagnosed despite the best efforts of their doctors and genetics specialists. The patients were nominated by clinical members of the Undiagnosed Diseases Network International (UDNI) from Sweden, Turkey, the Republic of Congo, Ghana, India, the United States, China and Pakistan.
Prior to the Undiagnosed Hackathon, the children and adults were evaluated with full clinical evaluation and genome and transcriptome sequencing, such as Whole Genome Sequencing (WGS), RNA sequencing, and Long Reads WGS and Long Reads RNA.
German Demidov was one of the participants at the Undiagnosed Hackathon 2023. Please, read his article. Undiagnosed Hackathon 2023: Moving the Borders of Rare Disease Genetic Diagnostics
Karolinska Hospital's article about the Undiagnosed Hackathon International expert group cracked the code to unsolved diagnoses