University of Oulu

Zárybnický, T., Heikkinen, A., Kangas, S. M., Karikoski, M., Martínez-Nieto, G. A., Salo, M. H., Uusimaa, J., Vuolteenaho, R., Hinttala, R., Sipilä, P., & Kuure, S. (2021). Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage. Cells, 10(11), 3158.

Modeling rare human disorders in mice : the Finnish disease heritage

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Author: Zárybnický, Tomáš1; Heikkinen, Anne2,3; Kangas, Salla M.2,4,5;
Organizations: 1Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, P.O. Box 63, 00014 Helsinki, Finland
2Biocenter Oulu, University of Oulu, P.O. Box 5000, 90014 Oulu, Finland
3Oulu Center for Cell-Matrix Research, Faculty of Biochemistry and Molecular Medicine, University of Oulu, P.O. Box 8000, 90014 Oulu, Finland
4PEDEGO Research Unit, University of Oulu, P.O. Box 8000, 90014 Oulu, Finland
5Medical Research Center, Oulu University Hospital, University of Oulu, P.O. Box 5000, 90014 Oulu, Finland
6Research Centre for Integrative Physiology and Pharmacology, Institute of Biomedicine, University of Turku, 20520 Turku, Finland
7Turku Center for Disease Modelling (TCDM), Institute of Biomedicine, University of Turku, 20520 Turku, Finland
8Clinic for Children and Adolescents, Division of Pediatric Neurology, Oulu University Hospital, P.O. Box 20, 90029 Oulu, Finland
9GM-Unit, Laboratory Animal Center, Helsinki Institute of Life Science, University of Helsinki, 00790 Helsinki, Finland
Format: article
Version: published version
Access: open
Online Access: PDF Full Text (PDF, 0.5 MB)
Persistent link:
Language: English
Published: Multidisciplinary Digital Publishing Institute, 2021
Publish Date: 2022-02-15


The modification of genes in animal models has evidently and comprehensively improved our knowledge on proteins and signaling pathways in human physiology and pathology. In this review, we discuss almost 40 monogenic rare diseases that are enriched in the Finnish population and defined as the Finnish disease heritage (FDH). We will highlight how gene-modified mouse models have greatly facilitated the understanding of the pathological manifestations of these diseases and how some of the diseases still lack proper models. We urge the establishment of subsequent international consortiums to cooperatively plan and carry out future human disease modeling strategies. Detailed information on disease mechanisms brings along broader understanding of the molecular pathways they act along both parallel and transverse to the proteins affected in rare diseases, therefore also aiding understanding of common disease pathologies.

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Series: Cells
ISSN: 2073-4409
ISSN-E: 2073-4409
ISSN-L: 2073-4409
Volume: 10
Issue: 11
Article number: 3158
DOI: 10.3390/cells10113158
Type of Publication: A2 Review article in a scientific journal
Field of Science: 1182 Biochemistry, cell and molecular biology
Funding: This research was funded by the Jane and Aatos Erkko Foundation, FinnDisMice consortium; Helsinki Institute of Life Science (HiLIFE), University of Helsinki for S.K.; Foundation for Pediatric Research; the Academy of Finland project grant (#331436) for J.U., and profiling program (grant #311934), University of Oulu for R.H. Open access funding provided by University of Helsinki.
Academy of Finland Grant Number: 331436
Detailed Information: 331436 (Academy of Finland Funding decision)
Copyright information: © 2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (