Finlands Akademi  
Sökande / Kontakt person Uusimaa, Johanna
Organisation Uleåborgs universitet
Projektets titel Childhood-onset genetic brain white matter diseases – novel diseases as tools to study myelin formation, maintenance and demyelination
Beslutnr 331436
Beslutsdatum 27.05.2020
Finansierings period 01.01.2021 - 31.12.2024
Finansiering 525 500
Beskrivning av projektet
In this research project, carried out at the University of Oulu, we study rare genetic childhood disorders affecting white matter in brain. White matter consists of nerve cells ensheathed and protected by myelin-forming cells. In white matter disorders, myelin does not develop normally or it disintegrates, which causes neurological symptoms. These disorders are most often progressive and incurable. To be able to treat these disorders, we need to understand the cellular events essential for myelin formation. In this project, we study the functions of genes with harmful mutations identified in the patients with white matter disorders. We use stem cells, derived from human skin cells, to make nerve cells and myelin-forming cells for research. We combine the patient data from clinics and basic research results to increase the knowledge about white matter disorders. Results from this research help to improve diagnostics and to develop treatments for patients.