Genetic testing of various eye disorders
| Autor: | Kinga M. Bujakowska, Hilary A Scott, Riccardo Sangermano, Naomi E Wagner, Emily Place |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
education.field_of_study
genetic structures medicine.diagnostic_test business.industry Genetic enhancement Eye disease Population Computational biology medicine.disease Pathogenicity eye diseases medicine Eye disorder sense organs Copy-number variation Genetic diagnosis education business Genetic testing |
| Popis: | A significant number of individuals suffer from hereditary ocular disorders and age-related vision impairments and that number is expected to double as the population ages. With the recent advancements in gene therapy shown to be effective in treating some forms of eye disease, it has become clinically relevant to provide accurate genetic diagnosis in these cases. However, considerable genetic overlap between clinical phenotypes necessitates tailored genetic testing approaches to identify the underlying causes. Furthermore, multiple classes of pathogenic variants have been associated with ocular disorders, which include coding and non-coding changes, copy number variation (CNV), and chromosomal aberrations each requiring specific sequencing strategies, while follow-up experimentation is required to fully assess their pathogenicity. This chapter discusses current methods to detect and analyze genetic variants leading to eye disease with the ultimate goal of identifying therapeutic targets for treatment. |
| Databáze: | OpenAIRE |
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