350 million People Living With an Undiagnosed Disease PLWUD 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 Undiagnosed Hackathon 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 at the Radboud umc in Nijmegen, The 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 will be thoroughly evaluated and will be accompanied by clinical summaries in English and phenotyping with Tip2Toe, short and long-read WGS, short and long-read RNA seq, Optical Genome Mapping, Transcriptomes and access to clinicians involved in the patient care.
Sequencing data will be pre-processed by the bioinformatics team at the Radboud umc, as well as through partner platforms.
The Undiagnosed Hackathon 2023
That's why Wilhelm Foundation together with Prof. Ann Nordgren, Karolinska-UDP, Karolinska Hospital/Institute and CEO Orion Buske, PhenoTips, Canada arranged the world's first Undiagnosed Hackathon 2023 and invited clinicians, geneticists, bioinformaticians, molecular biologists, scientists, data developers, AI specialists and brilliant minds from all over the world. The Undiagnosed Hackathon took place at Karolinska Institute and Karolinska hospital, Stockholm Sweden.
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 children and audult with Undiagnosed Diases 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.
Click on the picture and the film about Undiagnosed Hackathon 2023 will start.
More about Undiagnosed Hackathon 2023
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
Please, visit Undiagnosed Hackathon's official Website
Interested in partnering or sponsoring the Undiagnosed Hackathon? Please, contact info@wilhelmfoundation.org
