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The identification of new genes responsible for Hereditary Dystrophies of the Retina using Next-Generation Sequencing technology and the determination of associated pathogenic mechanisms

16th national competition for scientific and technical research

Rare diseases

Senior Researcher : Guillermo Antiñolo Gil

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Research Centre or Institution : Hospital Universitario Virgen del Rocío. Sevilla.


Hereditary Dystrophies of the Retina (HDR) are extraordinarily complex and genetically heterogeneous pathologies. Despite the intense efforts made to map them over the past two decades, the mutations detectable in known genes only explain a relatively small percentage of cases. Therefore, many HDR genes have yet to be identified, as well as mutations in regions not usually analysed. During this year work has been undertaken towards objectives 1 and 2, as described in detail in the report accompanying the application. To date, the families to be included within the cohort have been clinically evaluated and selected. Priority has been given to the study of families affected by recessive autosomal retinitis pigmentosa (RPar) in which the underlying genetic cause has not been detected by the techniques used to date. Analysis of these families took place following version 1.0 of the Medical Genome Project protocol for the selective recruitment of exomes and subsequent massive sequencing using the SOLiD 5500xl platform. The reading from these sequencers were aligned against the hg19 human reference genome. Variants were identified using GATK (Genome Analysis Toolkit) software. Secondary analysis was undertaken by following two complementary approaches: VAAST (Variant Annotation, Analysis and Selection Tool) and a tool developed at the Prince Felipe Research Centre (CIPF, Valencia). 7 families have been analysed to date, with a total of 28 individuals. Subsequent biocomputation analysis has resulted in the identification of different candidate genes. Work is currently taking place to validate these genes and their possible involvement in RPar. To summarise, the search for new mutational events using new technologies will make it possible to advance in the study of the molecular bases of DHR, offering new expectations for their treatment.

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