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The Finnish genetic heritage in 2022 : from diagnosis to translational research |
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| Author: | Uusimaa, Johanna1,2; Kettunen, Johannes3,4,5; Varilo, Teppo4,6; |
| Organizations: |
1Children and Adolescents, Oulu University Hospital, 90029 Oulu, Finland 2Research Unit of Clinical Medicine and Medical Research Center, Oulu University Hospital and University of Oulu, 90014 Oulu, Finland 3Computational Medicine, Center for Life Course Health Research, University of Oulu, 90014 Oulu, Finland
4Department of Public Health and Welfare, Finnish Institute for Health and Welfare, 00271 Helsinki, Finland
5Biocenter Oulu, University of Oulu, 90014 Oulu, Finland 6Department of Medical Genetics, University of Helsinki, 00251 Helsinki, Finland 7Folkhälsan Institute of Genetics, Folkhälsan Research Center, 00014 Helsinki, Finland 8Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, 00014 Helsinki, Finland 9Department of Pediatric Neurology, Helsinki University Hospital and University of Helsinki, 00029 Helsinki, Finland 10Children's Hospital, University of Helsinki and Helsinki University Central Hospital, 00029 Helsinki, Finland 11Department of Clinical Chemistry, Cancer and Translational Medicine Research Unit, Medical Research Center, University of Oulu and Northern Finland Laboratory Centre NordLab, Oulu University Hospital, 90029 Oulu, Finland 12Research Centre for Integrative Physiology and Pharmacology, Institute of Biomedicine, University of Turku, 20014 Turku, Finland 13Research Centre of Applied and Preventive Cardiovascular Medicine, University of Turku, 20014 Turku, Finland 14Centre for Population Health Research, University of Turku and Turku University Hospital, 20014 Turku, Finland 15Department of Pediatrics, Turku University Hospital, 20014 Turku, Finland 16Department of Clinical Genetics, Oulu University Hospital, 90029 Oulu, Finland 17HUS Diagnostics, Helsinki University Hospital, 00014 Helsinki, Finland 18Institute of Biochemistry, Medical Faculty, University of Giessen, D-35392 Giessen, Germany 19Neuroscience Center, Helsinki Institute of Life Science, University of Helsinki, 00014 Helsinki, Finland 20Helsinki Institute of Life Science, University of Helsinki, 00014 Helsinki, Finland 21Turku Center for Disease Modeling, Institute of Biomedicine, University of Turku, 20014 Turku, Finland 22Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki , 00014 Helsinki , Finland 23GM-Unit, Laboratory Animal Center, Helsinki Institute of Life Science, University of Helsinki, 00014 Helsinki, Finland |
| Format: | article |
| Version: | published version |
| Access: | open |
| Online Access: | PDF Full Text (PDF, 0.8 MB) |
| Persistent link: | http://urn.fi/urn:nbn:fi-fe2023070481032 |
| Language: | English |
| Published: |
Company of Biologists,
2022
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| Publish Date: | 2023-07-04 |
| Description: |
AbstractIsolated populations have been valuable for the discovery of rare monogenic diseases and their causative genetic variants. Finnish disease heritage (FDH) is an example of a group of hereditary monogenic disorders caused by single major, usually autosomal-recessive, variants enriched in the population due to several past genetic drift events. Interestingly, distinct subpopulations have remained in Finland and have maintained their unique genetic repertoire. Thus, FDH diseases have persisted, facilitating vigorous research on the underlying molecular mechanisms and development of treatment options. This Review summarizes the current status of FDH, including the most recently discovered FDH disorders, and introduces a set of other recently identified diseases that share common features with the traditional FDH diseases. The Review also discusses a new era for population-based studies, which combine various forms of big data to identify novel genotype–phenotype associations behind more complex conditions, as exemplified here by the FinnGen project. In addition to the pathogenic variants with an unequivocal causative role in the disease phenotype, several risk alleles that correlate with certain phenotypic features have been identified among the Finns, further emphasizing the broad value of studying genetically isolated populations. see all
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| Series: |
Disease models & mechanisms |
| ISSN: | 1754-8403 |
| ISSN-E: | 1754-8411 |
| ISSN-L: | 1754-8403 |
| Volume: | 15 |
| Issue: | 10 |
| Article number: | dmm049490 |
| DOI: | 10.1242/dmm.049490 |
| OADOI: | https://oadoi.org/10.1242/dmm.049490 |
| Type of Publication: |
A2 Review article in a scientific journal |
| Field of Science: |
3111 Biomedicine |
| Subjects: | |
| Funding: |
This work was funded by Jane ja Aatos Erkon Säätiö (Jane and Aatos Erkko Foundation; M.L., A.S., R.T., P.S., S.K., R.H.), FinnDisMice consortium (P.S., S.K., R.H.), Helsinki Institute of Life Science, Helsingin Yliopisto (Helsinki Institute of Life Science, University of Helsinki; S.K.), Lastentautien Tutkimussäätiö (Finnish Foundation for Pediatric Research; J.U., R.H.), Academy of Finland (profiling programme, 311934 to R.H.; 307592 and 334005 to A.S.), Oulun Yliopisto (University of Oulu; R.H.) and Helsingin Yliopisto (University of Helsinki; A.S.). |
| Copyright information: |
© 2022. Published by The Company of Biologists Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution and reproduction in any medium provided that the original work is properly attributed. |
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https://creativecommons.org/licenses/by/4.0/ |