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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Autores principales:	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
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	rare diseases monogenic diseases mouse models CRISPR/Cas9 genome engineering Finnish disease heritage Biology (General) QH301-705.5
Acceso en línea:	https://doaj.org/article/51145108edac43eaa2eb4993dd172c41
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spelling	oai:doaj.org-article:51145108edac43eaa2eb4993dd172c412021-11-25T17:12:07ZModeling Rare Human Disorders in Mice: The Finnish Disease Heritage10.3390/cells101131582073-4409https://doaj.org/article/51145108edac43eaa2eb4993dd172c412021-11-01T00:00:00Zhttps://www.mdpi.com/2073-4409/10/11/3158https://doaj.org/toc/2073-4409The 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.Tomáš ZárybnickýAnne HeikkinenSalla M. KangasMarika KarikoskiGuillermo Antonio Martínez-NietoMiia H. SaloJohanna UusimaaReetta VuolteenahoReetta HinttalaPetra SipiläSatu KuureMDPI AGarticlerare diseasesmonogenic diseasesmouse modelsCRISPR/Cas9genome engineeringFinnish disease heritageBiology (General)QH301-705.5ENCells, Vol 10, Iss 3158, p 3158 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	rare diseases monogenic diseases mouse models CRISPR/Cas9 genome engineering Finnish disease heritage Biology (General) QH301-705.5
spellingShingle	rare diseases monogenic diseases mouse models CRISPR/Cas9 genome engineering Finnish disease heritage Biology (General) QH301-705.5 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
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.
format	article
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
title	Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage
title_short	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_sort	modeling rare human disorders in mice: the finnish disease heritage
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/51145108edac43eaa2eb4993dd172c41
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Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage

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