The population in the north of Finland has a unique genetic background. A unique genetic background has enabled the study of rare diseases and the discovery of new genes, proteins and reaction paths.
Docent Reetta Hinttala from the University of Oulu and Johanna Uusimaa, Professor of Pediatric Neurology, have discovered mutations in the NHLRC2 gene as a cause of a severe childhood multiorgan disease. When you want to find out how a disease emerges and develops in humans, the only way of doing this is to study it in living organisms. Only then can we monitor what the protein that causes a disease is doing in the organism. In this particular case, we created a mouse model with the same mutation combination as the patients. A
knock-out mouse, in which the NHLRC2 gene has been completely turned off, was obtained from the EMMA repository of the Infrafrontier infrastructure. EMMA (The European Mouse Mutant Archive) archives genetically modified mouse strains from around the world.
According to Hinttala, the study of rare diseases involves a high probability of discovering the reaction paths that also lead to more common diseases.
ELIXIR is partly funded by the European Commission