Genetic Diseases in Northern Finland (FINNDIG)

Research group information

Contact information

Research group leader

  • Professor, Clinical Geneticist
    Jukka Moilanen

Research group description

There are over 6000 different rare diseases, each affecting no more than 1:2000 persons. These diseases affect an estimated 30 million people in the EU. Approximately 80 % of the rare diseases are genetic in origin, but the genetic causes and/or their phenotypic consequences are still not well known in many diseases. The population of Northern Finland has a unique population history and represents a genetic isolate. Our department is the only clinical genetics unit in Northern Finland (45 % of the geographical area of the country) and has comprehensive registries since 1980s. We conduct a research programme in which patients are invited to participate in research and clinically relevant research findings are returned to healthcare and utilized in genetic counselling. The research represents a modern approach to genomic medicine in the field of rare diseases.

Our team

  • Outi Kuismin, M.D., Ph.D., Clinical Geneticist, NFID local coordinator
  • Elisa Rahikkala, M.D., Ph.D., Clinical Geneticist, Associate professor, Academy of Finland Clinical Researcher
  • Riikka Keski-Filppula, M.D., Ph.D., Clinical Geneticist
  • Minna Kraatari-Tiri, M.D., Ph.D., Clinical Geneticist, Clinical Instructor
  • Four PhD students
  • Other researchers specific to individual subprojects

Where are we headed

Latest genome-wide analysis methods will continue to be used to find molecular genetic explanations in previously unresolved cases. Phenotype-modifying additional genetic factors will be screened for in some larger disease-specific patient cohorts. Assessment of the effectiveness of genetic counseling in various patient cohorts will soon be included in the research program.

Our main collaborators

  • Clinicians and clinical researchers of many other medical specialities at Oulu University Hospital
  • Researchers at the University of Oulu and Biocenter Oulu Sequencing Center
  • Clinical laboratory geneticists at Nordlab Oulu
  • Finnish Institute of Molecular Medicine (FIMM)
  • Disease-specific international collaboration partners

Our department is a full member of ERN-ITHACA (European Reference Network for Rare Malformation Syndromes, Intellectual and Other Neurodevelopmental Disorders) and a member of ERN GENTURIS (European Reference Network on Genetic Tumour Risk Syndromes) as part of the GENTURISFINSN consortium. The Northern Finland Intellectual Disability (NFID) cohort (> 1000 individuals) has been collected in collaboration with FIMM and the data are currently being analysed.

How to find us