Genetic Diseases in Northern Finland (FINNDIG)
Research group leader
- Professor, Clinical GeneticistJukka 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.
- 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