Interreg-funded project: EKIDNA
About
EKIDNA (DNA and human health: an integrated “citizen-scientist” model to accelerate innovation) is a cross-border project funded by the Interreg VI-A Italy-Austria 2021-2027 programme. It runs from March 2026 to March 2028. More information is available on the EKIDNA project website.
The project combines two goals: strengthening genomics research on chronic kidney disease (CKD) in South Tyrol, Tyrol and Friuli Venezia Giulia, and actively involving secondary school students in the scientific process. CKD affects around 10% of the population, and most people who have it are unaware of their condition.
The project has four work packages:
- Project management and communication, coordinated by Eurac Research.
- Genomic platform, coordinated by our institute: scalable and reproducible workflows to identify and characterize genetic variants involved in CKD.
- Citizen science, coordinated by the University of Udine: school projects in all three regions.
- Knowledge transfer: evaluation, teacher–researcher workshops, a science communication video and scientific publications.
GENOME@SCHOOL
In Tyrol, we work with the Bundesrealgymnasium Imst over one school year, including a project week at the Medical University of Innsbruck. Students get hands-on experience with the full workflow of modern sequencing, from nanopore sequencing in the lab to the bioinformatic analysis and interpretation of genetic variants in CKD-associated genes.
Partners
- Eurac Research, Institute for Biomedicine, Bolzano (Lead Partner; PI: Dr. Cristian Pattaro)
- Medical University of Innsbruck, Institute of Genetic Epidemiology (PI: Univ.-Prof. Sebastian Schönherr)
- University of Udine, Department of Medicine (PI: Prof. Eros Di Giorgio)
Team
Professor of Digital and Computational Genetics
+43 512 9003 70579
sebastian.schoenherr@i-med.ac.at
Related publications
Di Maio S, Zöscher P, Weissensteiner H, Forer L, Schachtl-Riess JF, Amstler S, Streiter G, Pfurtscheller C, Paulweber B, Kronenberg F, Coassin S, Schönherr S: Resolving intra-repeat variation in medically relevant VNTRs from short-read sequencing data using the cardiovascular risk gene LPA as a model. Genome Biol. 25:167, 2024. PMID: 38926899 Journal Article
Schönherr S, Schachtl-Riess JF, Di Maio S*, Filosi M, Mark M, Lamina C, Fuchsberger C, Kronenberg F, Forer L: Performing highly parallelized and reproducible GWAS analysis on biobank-scale data. NAR Genom Bioinform 6:lqae015, 2024. PMID: 38327871 Journal Article
Das S, Forer L, Schönherr S*, Sidore C, Locke AE, Kwong A, Vrieze SI, Chew EY, Levy S, McGue M, Schlessinger D, Stambolian D, Loh PR, Iacono WG, Swaroop A, Scott LJ, Cucca F, Kronenberg F, Boehnke M, Abecasis GR, Fuchsberger C: Next-generation genotype imputation service and methods. Nat. Genet. 48:1284-1287, 2016. PMID: 27571263 Journal Article