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

Johanna Uusimaa, M.D., Ph.D. and Reetta Hinttala, Ph.D.

Project leaders
Dr. Johanna Uusimaa, M.D., Ph.D., Professor of Pediatric Neurology, Pediatrician and Pediatric Neurologist
Dr. Reetta Hinttala, Ph.D., Academy of Finland Research Fellow

PEDEGO Research Unit, and Biocenter Oulu, University of Oulu; Medical Research Center, Oulu University Hospital, Oulu, Finland

Mailing address
P.O.Box 5000, FIN-90014 University of Oulu, Finland

Street address
Aapistie 5A, Biocenter Oulu, 3rd floor, 90220 Oulu, Finland

Focus area spearhead project web page:

About the project

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.

Project details

  1. Background and Significance
  2. Recent Progress
  3. Future Goals
  4. Selected Publications
  5. Research Group Members
  6. National and International Activities

Last updated: 15.10.2018