Stockholm, Sweden • June 17–18, 2023
Genome sequencing can provide answers for many families, but around 60% of patients still don't receive a diagnosis. The first Undiagnosed Hackathon will bring together around 100 global experts in genetics and bioinformatics to tackle complex unsolved cases in new ways, while raising awareness for undiagnosed diseases.
The event centers around approximately 14 patients 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 (UDN-I) and span a range of countries, including Sweden, Turkey, and Pakistan. Before the event, the patients received a full clinical evaluation and genome and transcriptome sequencing.
You can read more about each of the patients here:
At the event, participants will get access to detailed clinical, phenotype, transcriptome, and genome data for 13 patients with undiagnosed conditions. Patient data will include:
Clinical summaries in English
Long-read WGS & RNA (blood, Nanopore)
Access to clinicians involved in the patient care
Sequencing data will be pre-processed by the bioinformatics team at the Karolinska, 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.
Karolinska University Hospital, Stockholm, Sweden
Nya Karolinska Sjukhuset, Eugeniavägen 3, Stockholm