{"id":12383,"date":"2025-03-28T12:04:54","date_gmt":"2025-03-28T12:04:54","guid":{"rendered":"https:\/\/ring20researchsupport.co.uk\/?p=12383"},"modified":"2025-05-09T17:46:47","modified_gmt":"2025-05-09T16:46:47","slug":"chop_study","status":"publish","type":"post","link":"https:\/\/ring20researchsupport.co.uk\/nl\/2025\/03\/chop_study\/","title":{"rendered":"CHOP genomische studie"},"content":{"rendered":"
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Woont u in de buurt van Pennsylvania of kunt u er gemakkelijk naartoe reizen?<\/strong>
Zo ja, dan kunt u helpen met onderzoek naar de genomische verandering die de symptomen van het r(20)-syndroom veroorzaakt.
Carolina Monta\u00f1o, MD, PhD is een behandelend arts bij de afdeling Humane Genetica van de afdeling Kindergeneeskunde van het kinderziekenhuis van Philadelphia en werkt nauw samen met Nancy Spinner, een vooraanstaand lid van onze Ring20 Internationale Wetenschappelijke Adviesraad. <\/a>Samen met Glennis Logsdon starten ze een onderzoek om de oorzaak van de ringvorming te achterhalen en waarom dit leidt tot epileptische aanvallen en andere problemen.<\/p>

Lees verder om meer te weten te komen over deze studie en hoe u kunt deelnemen\u2026<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t

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DOEL: Long read sequencing gebruiken om te proberen de pathogene variatie te identificeren bij mensen die leven met het r(20)-syndroom<\/h2>\t\t\t\t<\/div>\n\t\t\t\t
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Waarom meedoen\u2026<\/h2>

Door bloed- en\/of huidmonsters van mensen met een r(20)-diagnose te bestuderen, proberen onderzoekers te ontdekken welke genomische verandering de ringvorming veroorzaakt en waarom de aanvallen en andere problemen optreden.\u00a0<\/p>

Kom ik in aanmerking\u2026<\/h2>

Om in aanmerking te komen voor deelname aan dit onderzoek moet u:<\/p>

  1. Heb een bevestigde diagnose van ringchromosoom 20 \u2013 In eerste instantie willen we monsters van individuen met een hoger niveau van moza\u00efcisme zonder deleties, <\/strong>De onderzoekers willen echter graag verschillende monsters voor verder onderzoek.<\/li>
  2. Wees bereid om persoonlijk een monster af te geven bij het Children's Hospital of Philadelphia (CHOP). U hoeft hiervoor geen pati\u00ebnt te zijn bij het CHOP.<\/li>
  3. Ga bij voorkeur met beide biologische ouders mee, zodat zij ook een monster kunnen afgeven.<\/li>
  4. Zorg dat u uw toestemming kunt geven. Ge\u00efnformeerde toestemming kan worden verkregen van de pati\u00ebnt of verzorger.<\/li><\/ol>

    Zal dit mij ten goede komen\u2026<\/h2>

    De bevindingen uit dit onderzoek kunnen bijdragen aan toekomstig onderzoek naar het vinden van gerichtere en effectievere behandelingen voor het r(20)-syndroom, en naar het vinden van eenvoudigere manieren om r(20) te diagnosticeren.\u00a0
    Uiteindelijk kan het vinden van meer mensen die met r(20) leven ons helpen meer te begrijpen over:<\/p>

    1. Hoeveel mensen hebben daadwerkelijk r(20) in de wereld?<\/li>
    2. hoe r(20)-symptomen in de loop van de tijd veranderen<\/li><\/ol>

      Het zou ook de deur kunnen openen voor meer onderzoeksinteresse in r(20) in de toekomst.<\/p>

      Wat moet ik doen\u2026<\/h2>

      U moet naar het Children's Hospital of Philadelphia om een bloedmonster (en eventueel een huidbiopsie) te laten afnemen. Personen dienen idealiter met beide biologische ouders aanwezig te zijn, aangezien er ook monsters van de biologische moeder en biologische vader moeten worden afgenomen.<\/p>

      Wat zal er gebeuren na\u2026<\/h2>

      Het onderzoeksteam kan hun bevindingen publiceren en de nieuwe kennis gebruiken om verder onderzoek naar r(20) te informeren.<\/p>

      Heeft u vragen\u2026<\/h2>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t
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      Voor een verzoek om deel te nemen aan dit onderzoek, of als u nog vragen heeft, kunt u contact opnemen met<\/p>

      Carolina Montana:<\/a> montanoc@chop.edu<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t

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      Kun je naar CHOP reizen? En ben je bereid om te helpen met een genomisch onderzoek voor Ring20?<\/p>","protected":false},"author":3,"featured_media":12385,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"default","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":"","ast-disable-related-posts":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"set","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":[84,43],"tags":[],"class_list":["post-12383","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-news","category-research"],"yoast_head":"\nCHOP Genomic study - Ring20 Research and Support UK CIO<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/ring20researchsupport.co.uk\/nl\/2025\/03\/chop_study\/\" \/>\n<meta property=\"og:locale\" content=\"nl_NL\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"CHOP Genomic study - Ring20 Research and Support UK CIO\" \/>\n<meta property=\"og:description\" content=\"Can you travel to CHOP? 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