UDN Sweden is a national initiative within Genomic Medicine Sweden, led from UDP Karolinska, that diagnoses children with rare, unexplained disorders using advanced genomic technologies. The program combines careful standardized phenotyping with short-read whole-genome sequencing trios, long-read sequencing, RNA-sequencing, and EPIC methylation arrays, when standard testing fails. It brings together clinicians, molecular geneticists, bioinformaticians and researchers across all Swedish university hospitals to harmonize diagnostics and ensure equitable access. UDP Karolinska is part of the global Undiagnosed Diseases Network International. Its goal is to achieve precise diagnoses, improve care, and identify new disease mechanisms.
Date: Tuesday 17 February, 05:00 – 06:30 PM CET
Program
Welcome and Introduction UDN Sweden
Undiagnosed Diseases Network Sweden
- Speaker: Ann Nordgren, Professor and Senior Consultant in Clinical genetics
- From: Karolinska University Hospital and Karolinska Institute, Stockholm, Sweden
UDN Sweden – Study Design & National Hackathon
- Speaker: Fulya Taylan, Associate professor in Medical genetics
- From: Karolinska University Hospital and Karolinska Institute, Stockholm, Sweden
UDN Sweden – Results from srWGS and RNA-seq
- Speaker: Angelica Delgado Vega, MD PhD in Clinical genetics
- From: Karolinska University hospital and Karolinska Institute, Stockholm, Sweden
Long-read sequencing and Complex structural variants
- Speaker: Anna Lindstrand, Professor and Senior Consultant in Clinical genetics
- From: Karolinska University hospital and Karolinska Institute, Stockholm, Sweden
Repeat expansions
- Speaker: Håkan Thonberg, Associate professor in Medical genetics From: Karolinska University Hospital and Karolinska Institute, Stockholm, Sweden
Other difficult-to-find changes in the human genome
- Speaker: Jesper Eisfeldt, PhD, Bioinformatician
- From: Karolinska University Hospital and Karolinska Institute, Stockholm, Sweden
Discussion time, Conclusion with speakers and moderator
Registration
Link to register: Microsoft Virtual Events Powered by Teams