Rare diseases solved through Undiagnosed Hackathons

The world’s first Undiagnosed Hackathon was held in Stockholm in the summer of 2023, organized by the Undiagnosed Diseases Network International, the Wilhelm Foundation, and the Undiagnosed Diseases Programme Karolinska. Nearly 100 experts from around the world came together for 48 intense hours, resulting in four of 13 previously undiagnosed children receiving a diagnosis. The results of the hackathon were recently published in Nature Genetics.
Since 2023, global Undiagnosed Hackathons are arranged annually. Sweden’s first national Undiagnosed Hackathon was organized in Stockholm in February 2025. For this event, cases from all university healthcare regions were selected, for a total of twelve children being analyzed.
The Clinical Genomics platform contributed with data and expertise for the hackathons, including short- and long-read whole-genome sequencing, RNA sequencing and methylation arrays.

The value of the hackathons is to bring different expertise together, including clinicians, geneticists, bioinformaticians and technology experts. The long-read data was very useful for detection of complex structural variants, and we identified several putatively disease-causing variants which will be investigated further, says Joakim Klar, Clinical Laboratory Geneticist specializing on rare diseases at Uppsala University Hospital and Clinical Genomics Uppsala, who attended the Swedish Undiagnosed Hackathon.