Key result
Gene-modified mouse models have greatly facilitated the understanding of the pathological manifestations of almost 40 monogenic rare diseases defined as the Finnish disease heritage.
Why the study?
Gene modification in animal models improves knowledge of human pathology, but some of the rare monogenic disorders in the Finnish disease heritage still lack proper models.
This review highlights the utility of gene-modified mouse models in understanding the molecular pathways of rare monogenic diseases enriched in the Finnish population.
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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Zárybnický et al. (2021) conducted a review in Finnish disease heritage (FDH). Gene-modified mouse models was evaluated. Gene-modified mouse models have greatly facilitated the understanding of the pathological manifestations of almost 40 monogenic rare diseases defined as the Finnish disease heritage.
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