Johanna Uusimaa

Johanna Uusimaa


Professor of Pediatric Neurology
Pediatrics and Pediatric Neurology


Dr. Johanna Uusimaa started her PhD thesis work in 1988 as the second year medical student in the Bioenergetics Group lead by prof Ilmo Hassinen and Prof Kalervo Hiltunen at the Department of Medical Biochemistry, University of Oulu. She defended the thesis on “Metabolism of D3-double bonds of unsaturated fatty acids in mammals. Rat and human isoforms of D3, D2-enoyl-CoA isomerase“ in 1994 (supervised by prof Hiltunen). Dr. Uusimaa specialized in Pediatrics in 2000 and Pediatric Neurology in 2003 at the Department of Pediatrics, Oulu University Hospital and University of Oulu.

During the years 1996-2004 Dr. Uusimaa worked as a part-time post-doctoral researcher in the Northern Mitochondria research group lead by prof. Majamaa and developed a pediatric subproject collaborating with prof Ilmo Hassinen and prof Heikki Rantala.

Since 2003 Dr. Uusimaa has worked as a Consultant in Pediatric Neurology at the Dept of Pediatrics, Oulu University Hospital, and since 2005 as a leader of the research group studying pediatric mitochondrial diseases. Dr. Uusimaa achieved an Adjunct Professorship in Pediatric Neurology in 2009. During the years 2009-10 she worked as a post-doctoral researcher (Sigrid Juselius Senior Fellowship) at the University of Oxford, UK, and after that as an Academy Clinical Research Fellow (50 %) in 2011-2013. Since 2013 Dr. Uusimaa has worked as a University Researcher (50 %, PEDEGO Research Group and MRC Oulu, University of Oulu), as a Senior Consultant of Pediatric Neurology (50 %, Department of Pediatrics, Oulu University Hospital) and as a leader of the Pediatric Neurometabolic Research Group together with Academy Researcher Reetta Hinttala, PhD. During the recent years, in collaboration with the University of Oxford (Oxford, UK), the McGill University (Montreal, Canada) and the Mitochondrial Clinical & Research Network (MCRN) of 8 European Centers, our research has been focused on dysfunction of cell energy metabolism and cell signaling pathways associated with childhood encephalomyopathies and cerebrohepatic manifestations as well as on studies related to mitochondria-targeted drug toxicity.

Memberships in research groups

Member of the Mitochondrial Clinical & Research Network ( 2011- Leader of Pediatric Neurometabolic Research Group together with Academy Researcher, PhD Reetta Hinttala 2013- Member of PEDEGO Research Group, Medical faculty, University of Oulu 2015-

Scientific merits

Professional and community activities

  • Chair of the Finnish Paediatric Neurology Association, 2015-18
  • Member of the National Development Committee for Rare Diseases, Ministry of Social Affairs and Health Finland 2012-2015
  • Member of the Scholarship Board of the Finnish Medical Foundation 2013-2015
  • Member of Executive Committee of the National Graduate School of 
Clinical Investigation 
  • Member of the Oulu University Hospital BioBank Board 
  • Member of the Finnish Metabolic Club 2006-
  • Member of the Finnish Paediatric Neurology Association, Member of Executive Committee 2001-2006, Secretary of Executive Committee 2002-2006

Selected publications

  • Uusimaa, Johanna; Hinttala, Reetta; Rantala, Heikki; Päivärinta, M.; Herva, Riitta; Röyttä, M.; Soini, Heidi; Moilanen, Jukka S.; Remes, Anne M.; Hassinen, Ilmo E. & Majamaa, Kari (2008) Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus. - Epilepsia 49 (6), 1038-1045