Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage
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 Finnis...
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| Format: | Article |
| Language: | English |
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MDPI AG
2021-11-01
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| Series: | Cells |
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| Online Access: | https://www.mdpi.com/2073-4409/10/11/3158 |
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| author | Tomáš Zárybnický Anne Heikkinen Salla M. Kangas Marika Karikoski Guillermo Antonio Martínez-Nieto Miia H. Salo Johanna Uusimaa Reetta Vuolteenaho Reetta Hinttala Petra Sipilä Satu Kuure |
| author_facet | Tomáš Zárybnický Anne Heikkinen Salla M. Kangas Marika Karikoski Guillermo Antonio Martínez-Nieto Miia H. Salo Johanna Uusimaa Reetta Vuolteenaho Reetta Hinttala Petra Sipilä Satu Kuure |
| author_sort | Tomáš Zárybnický |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-10T05:36:13Z |
| format | Article |
| id | doaj.art-51145108edac43eaa2eb4993dd172c41 |
| institution | Directory Open Access Journal |
| issn | 2073-4409 |
| language | English |
| last_indexed | 2024-03-10T05:36:13Z |
| publishDate | 2021-11-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Cells |
| spelling | doaj.art-51145108edac43eaa2eb4993dd172c412023-11-22T22:52:08ZengMDPI AGCells2073-44092021-11-011011315810.3390/cells10113158Modeling Rare Human Disorders in Mice: The Finnish Disease HeritageTomáš Zárybnický0Anne Heikkinen1Salla M. Kangas2Marika Karikoski3Guillermo Antonio Martínez-Nieto4Miia H. Salo5Johanna Uusimaa6Reetta Vuolteenaho7Reetta Hinttala8Petra Sipilä9Satu Kuure10Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, P.O. Box 63, 00014 Helsinki, FinlandBiocenter Oulu, University of Oulu, P.O. Box 5000, 90014 Oulu, FinlandBiocenter Oulu, University of Oulu, P.O. Box 5000, 90014 Oulu, FinlandResearch Centre for Integrative Physiology and Pharmacology, Institute of Biomedicine, University of Turku, 20520 Turku, FinlandResearch Centre for Integrative Physiology and Pharmacology, Institute of Biomedicine, University of Turku, 20520 Turku, FinlandBiocenter Oulu, University of Oulu, P.O. Box 5000, 90014 Oulu, FinlandPEDEGO Research Unit, University of Oulu, P.O. Box 8000, 90014 Oulu, FinlandBiocenter Oulu, University of Oulu, P.O. Box 5000, 90014 Oulu, FinlandBiocenter Oulu, University of Oulu, P.O. Box 5000, 90014 Oulu, FinlandResearch Centre for Integrative Physiology and Pharmacology, Institute of Biomedicine, University of Turku, 20520 Turku, FinlandStem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, P.O. Box 63, 00014 Helsinki, FinlandThe 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.https://www.mdpi.com/2073-4409/10/11/3158rare diseasesmonogenic diseasesmouse modelsCRISPR/Cas9genome engineeringFinnish disease heritage |
| spellingShingle | Tomáš Zárybnický Anne Heikkinen Salla M. Kangas Marika Karikoski Guillermo Antonio Martínez-Nieto Miia H. Salo Johanna Uusimaa Reetta Vuolteenaho Reetta Hinttala Petra Sipilä Satu Kuure Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage Cells rare diseases monogenic diseases mouse models CRISPR/Cas9 genome engineering Finnish disease heritage |
| title | Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage |
| title_full | Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage |
| title_fullStr | Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage |
| title_full_unstemmed | Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage |
| title_short | Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage |
| title_sort | modeling rare human disorders in mice the finnish disease heritage |
| topic | rare diseases monogenic diseases mouse models CRISPR/Cas9 genome engineering Finnish disease heritage |
| url | https://www.mdpi.com/2073-4409/10/11/3158 |
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