Zebrafish Models of Rare Hereditary Pediatric Diseases
Recent advances in sequencing technologies have made it significantly easier to find the genetic roots of rare hereditary pediatric diseases. These novel methods are not panaceas, however, and they often give ambiguous results, highlighting multiple possible causative mutations in affected patients....
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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MDPI AG
2018-05-01
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| Series: | Diseases |
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| Online Access: | http://www.mdpi.com/2079-9721/6/2/43 |
| _version_ | 1819319284280590336 |
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| author | Máté Varga Dorottya Ralbovszki Eszter Balogh Renáta Hamar Magdolna Keszthelyi Kálmán Tory |
| author_facet | Máté Varga Dorottya Ralbovszki Eszter Balogh Renáta Hamar Magdolna Keszthelyi Kálmán Tory |
| author_sort | Máté Varga |
| collection | DOAJ |
| description | Recent advances in sequencing technologies have made it significantly easier to find the genetic roots of rare hereditary pediatric diseases. These novel methods are not panaceas, however, and they often give ambiguous results, highlighting multiple possible causative mutations in affected patients. Furthermore, even when the mapping results are unambiguous, the affected gene might be of unknown function. In these cases, understanding how a particular genotype can result in a phenotype also needs carefully designed experimental work. Model organism genetics can offer a straightforward experimental setup for hypothesis testing. Containing orthologs for over 80% of the genes involved in human diseases, zebrafish (Danio rerio) has emerged as one of the top disease models over the past decade. A plethora of genetic tools makes it easy to create mutations in almost any gene of the zebrafish genome and these mutant strains can be used in high-throughput preclinical screens for active molecules. As this small vertebrate species offers several other advantages as well, its popularity in biomedical research is bound to increase, with “aquarium to bedside” drug development pipelines taking a more prevalent role in the near future. |
| first_indexed | 2024-12-24T11:01:14Z |
| format | Article |
| id | doaj.art-7b42f85ba7e54aa299f37cf328a699e7 |
| institution | Directory Open Access Journal |
| issn | 2079-9721 |
| language | English |
| last_indexed | 2024-12-24T11:01:14Z |
| publishDate | 2018-05-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Diseases |
| spelling | doaj.art-7b42f85ba7e54aa299f37cf328a699e72022-12-21T16:58:43ZengMDPI AGDiseases2079-97212018-05-01624310.3390/diseases6020043diseases6020043Zebrafish Models of Rare Hereditary Pediatric DiseasesMáté Varga0Dorottya Ralbovszki1Eszter Balogh2Renáta Hamar3Magdolna Keszthelyi4Kálmán Tory5Department of Genetics, ELTE Eötvös Loránd University, 1117 Budapest, HungaryDepartment of Genetics, ELTE Eötvös Loránd University, 1117 Budapest, HungaryMTA-SE Lendület Nephrogenetic Laboratory, 1083 Budapest, HungaryDepartment of Genetics, ELTE Eötvös Loránd University, 1117 Budapest, HungaryMTA-SE Lendület Nephrogenetic Laboratory, 1083 Budapest, HungaryMTA-SE Lendület Nephrogenetic Laboratory, 1083 Budapest, HungaryRecent advances in sequencing technologies have made it significantly easier to find the genetic roots of rare hereditary pediatric diseases. These novel methods are not panaceas, however, and they often give ambiguous results, highlighting multiple possible causative mutations in affected patients. Furthermore, even when the mapping results are unambiguous, the affected gene might be of unknown function. In these cases, understanding how a particular genotype can result in a phenotype also needs carefully designed experimental work. Model organism genetics can offer a straightforward experimental setup for hypothesis testing. Containing orthologs for over 80% of the genes involved in human diseases, zebrafish (Danio rerio) has emerged as one of the top disease models over the past decade. A plethora of genetic tools makes it easy to create mutations in almost any gene of the zebrafish genome and these mutant strains can be used in high-throughput preclinical screens for active molecules. As this small vertebrate species offers several other advantages as well, its popularity in biomedical research is bound to increase, with “aquarium to bedside” drug development pipelines taking a more prevalent role in the near future.http://www.mdpi.com/2079-9721/6/2/43zebrafishrare disease modelsdrug screening |
| spellingShingle | Máté Varga Dorottya Ralbovszki Eszter Balogh Renáta Hamar Magdolna Keszthelyi Kálmán Tory Zebrafish Models of Rare Hereditary Pediatric Diseases Diseases zebrafish rare disease models drug screening |
| title | Zebrafish Models of Rare Hereditary Pediatric Diseases |
| title_full | Zebrafish Models of Rare Hereditary Pediatric Diseases |
| title_fullStr | Zebrafish Models of Rare Hereditary Pediatric Diseases |
| title_full_unstemmed | Zebrafish Models of Rare Hereditary Pediatric Diseases |
| title_short | Zebrafish Models of Rare Hereditary Pediatric Diseases |
| title_sort | zebrafish models of rare hereditary pediatric diseases |
| topic | zebrafish rare disease models drug screening |
| url | http://www.mdpi.com/2079-9721/6/2/43 |
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