Dysfunction of cellular metabolic and signalling pathways behind severe neurological and multiorgan diseases in children

Project description

Strategic research project of the University of Oulu
Focus institute: Biocenter Oulu
Faculty: Faculty of Medicine (FMED)

Our research aim is to clarify the functional mechanisms caused by novel genetic factors in human disease pathogenesis that could be potentially treatable by drugs in future. Recently, exome sequencing, functional and bioinformatics studies carried out within a collaboration network have led us to identify novel factors with previously unknown functions involved in cell energy metabolism and cellular signalling pathways. In this project, pathomechanisms are studied in detail by using mice, zebrafish, fruit flies and patient-derived cell lines. Our project will bring valuable information about factors enriched in Northern Finland that are related to neurodegenerative diseases.

People

Johanna Uusimaa

Johanna Uusimaa

Professor of Pediatric Neurology
Salla Kangas

Salla Kangas

Postdoctoral researcher