{"id":5544,"date":"2016-09-26T00:00:00","date_gmt":"2016-09-25T22:00:00","guid":{"rendered":"https:\/\/idibell.cat\/en\/blog\/2020\/05\/01\/once-and-idibell-working-together-in-a-project-on-retinitis-pigmentosa\/"},"modified":"2020-05-29T11:18:37","modified_gmt":"2020-05-29T09:18:37","slug":"once-and-idibell-working-together-in-a-project-on-retinitis-pigmentosa","status":"publish","type":"post","link":"https:\/\/idibell.cat\/en\/2016\/09\/once-and-idibell-working-together-in-a-project-on-retinitis-pigmentosa\/","title":{"rendered":"ONCE and IDIBELL working together in a Project on Retinitis Pigmentosa"},"content":{"rendered":"

ONCE collaborates in the project led by researcher Juli\u00e1n Cer\u00f3n Madrigal, who heads the group “disease models in C. elegans<\/em>” at the Bellvitge Biomedical Research Institute (IDIBELL), which is entitled “Towards personalized medicine in a subtype of autosomal dominant retinitis pigmentosa.” The aim is the use of the nematode Caenorhabditis elegans<\/em> to approach disease mechanisms and use as a low cost pre-clinical model. <\/p>\n

The recent CRISPR \/ CAS9 technique is revolutionizing biomedical research as it facilitates “a la carte” genome editing. Thus, Dr Cer\u00f3n\u2019s group can reproduce Retinitis Pigmentosa mutations seen in patients in the genome of C. elegans<\/em>. Specifically, they will insert mutations in the PRP-8 \/ PRPF8 splicing factor that, being required for RNA processing in eukaryotes, is remarkably preserved. This action, supported by the ONCE, aims to introduce in C. elegans <\/em>a specific gene PRPF8 mutation that has been found in Spanish families. Thus, this system could be used as apre-clinical model to predict the effect of drugs on patients with specific mutations and test new therapeutic strategies. <\/p>\n

Hereditary retinal dystrophies are disorders with great clinical and genetic heterogeneity for which there is no cure today. They affect 15,000 people in Spain. To this date, 150 genes have been reported to be the cause of retinal dystrophy, illustrating the difficulty in addressing these disorders. The challenge is to design treatments that slow retinal degeneration and restore visual function, and this requires deeper knowledge of the molecular and cellular processes altered by mutations in different genes.<\/p>\n","protected":false},"excerpt":{"rendered":"

The research deals with functional studies of genes linked to a type of inherited blindness in order to identify potential therapeutic targets<\/p>\n","protected":false},"author":6,"featured_media":7794,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"no-sidebar","site-content-layout":"page-builder","ast-site-content-layout":"","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"default","adv-header-id-meta":"","stick-header-meta":"default","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"footnotes":""},"categories":[202],"tags":[],"class_list":["post-5544","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-modeling-human-diseases-in-c-elegans"],"publishpress_future_action":{"enabled":false,"date":"2025-03-02 03:45:00","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"publishpress_future_workflow_manual_trigger":{"enabledWorkflows":[]},"_links":{"self":[{"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/posts\/5544","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/users\/6"}],"replies":[{"embeddable":true,"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/comments?post=5544"}],"version-history":[{"count":0,"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/posts\/5544\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/media\/7794"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/media?parent=5544"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/categories?post=5544"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/tags?post=5544"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}