{"id":3807,"date":"2020-04-06T17:37:52","date_gmt":"2020-04-06T15:37:52","guid":{"rendered":"https:\/\/encore-expertisecentrum.nl\/?page_id=3807"},"modified":"2020-11-12T14:27:22","modified_gmt":"2020-11-12T13:27:22","slug":"klinisch-onderzoek","status":"publish","type":"page","link":"https:\/\/encore-expertisecentrum.nl\/en\/klinisch-onderzoek\/","title":{"rendered":"Clinical research"},"content":{"rendered":"[vc_row][vc_column][vc_tta_accordion][vc_tta_section title=&#8221;Wetenschappelijk onderzoek binnen ENCORE&#8221; tab_id=&#8221;1586186294241-9100eed7-9da5&#8243;][vc_column_text]Wij zijn een academisch ziekenhuis. Dit betekent dat wij het belangrijk vinden wetenschappelijk onderzoek te doen naar de aandoeningen die wij op de polikliniek behandelen. Op deze manier vergroten we de kennis van de onderliggende oorzaak, diagnostiek en behandeling van de aandoeningen, en hopen we in de toekomst een betere behandeling aan te kunnen bieden. Het verrichten van onderzoek is tevens een vereiste voor de formele erkenning van een expertise centrum door het ministerie van VWS. U kunt daarom gevraagd worden om deel te nemen aan onderzoek. Deelname aan onderzoek is altijd op vrijwillige basis. De verkregen data wordt in anonieme vorm opgeslagen en geanalyseerd. Het onderzoek is vooraf goedgekeurd door een ethische toetsingscommissie.<\/p>\n<p>The research within ENCORE can be divided into three main areas:<\/p>\n<ul>\n<li><strong>Pre-clinical (basic) research. <\/strong>This (laboratory) research focuses mainly on mouse models and stem cells and is intended to gain more insight into the mechanism underlying the disorders. These new insights should lead to the development of new medicines that improve the quality of life of patients.<\/li>\n<li><strong>Clinical (patient-related) research. <\/strong>This research attempts to learn more about the condition by conducting research with patients. Examples of clinical research are the collection of clinical data to gain a good insight into the course of a condition. Comparing the most efficient epilepsy or sleep medication or identifying the best communication technique are also examples of clinical research.<\/li>\n<li><strong>Translational research. <\/strong>ENCORE wants to bridge the gap between basic laboratory research and the clinic. To this end, a lot of translational research is being conducted within ENCORE. This can be laboratory research, such as, for example, research into the treatment of epilepsy in a mouse model of a disorder. Translational research can also be patient-related research, such as a clinical trial in which the new drugs developed in the laboratory are tested in patients.<\/li>\n<\/ul>\n<p>Het uitvoeren van onderzoek is aan strikte (ethische) regels gebonden, en wordt getoetst door een ethische commissie. Dit geldt zowel voor proefdier als pati\u00ebntgebonden onderzoek. Voor \u2018pati\u00ebntgebonden onderzoek\u2019 is ook altijd schriftelijk toestemming van de ouders\/voogd noodzakelijk. Dus alleen als u bereid bent om mee te doen aan onderzoek, worden de pati\u00ebnt gegevens (anoniem) gebruikt voor onderzoek.[\/vc_column_text][\/vc_tta_section][vc_tta_section title=&#8221;Aandachtsgebieden&#8221; tab_id=&#8221;1593509067136-d7cf0f86-e626&#8243;][vc_column_text]We richten ons op genetische aandoeningen die een verstoring van de normale ontwikkeling veroorzaken en daardoor leiden tot verstandelijk beperking, epilepsie en of gedragsproblemen (autisme). De zorg wordt gecombineerd met basaal en translationeel onderzoek naar de oorzaken en behandeling. Om dat er honderden verschillende genen betrokken zijn bij de ontwikkeling van de hersenen, hebben we twee aandachtsgebieden gedefinieerd:<\/p>\n<ol>\n<li>Genes that not only affect brain development but are also associated with an increased risk of tumors (in the brain or elsewhere in the body). These are in particular genes that are part of the signaling pathway within the cell. Via this signal pathway, the (brain) cell translates the stimuli it receives into a signal that is sent to the nucleus where the DNA is stored. Activation of this signaling pathway leads to the transcription of DNA and to the production of new proteins that can have very diverse functions in the (brain) cell. Mutations in these genes therefore not only affect the development of the brain, but are usually also associated with an increased risk of tumors elsewhere in the body. This includes genes in the RAS-PI3K-MTOR signaling pathway as well as genes involved in the repair of the DNA:<\/li>\n<\/ol>\n<ul>\n<li>Brain Overgrowth Syndromes<\/li>\n<li>Cortical malformation syndromes (MCD)<\/li>\n<li>Cardio-Facio-Cutaneous (CFC) Syndrome and Costello Syndrome (CS)<\/li>\n<li>DNA repair disorders<\/li>\n<li>Neurofibromatosis type 1 (NF1)<\/li>\n<li>Sturge-Weber<\/li>\n<li>Tuberous Sclerosis Complex (TSC)<\/li>\n<\/ul>\n<ol start=\"2\">\n<li>Genes that have a direct effect on signaling between brain cells. Brain cells communicate with each other through contact points (synapses). These contact points between brain cells are constantly being adjusted and can decrease or increase in strength (\"synaptic plasticity\"). This is essential for learning and memory. Impaired synaptic plasticity usually also affects brain development. This causes intellectual disability, epilepsy and \/ or behavioral disorders (such as autism). We focus in particular on the following disorders:<\/li>\n<\/ol>\n<ul>\n<li>Angelman syndrome (AS)<\/li>\n<li>CAMK2 syndrome<\/li>\n<li>Dup15q syndrome<\/li>\n<li>Fragile X Syndrome (FXS)<\/li>\n<li>SYNGAP1 syndrome<\/li>\n<li>Glutamate receptor syndromes (GRIN, GRIA)<\/li>\n<li>(Ultra) rare genetic disorders that lead to developmental disorders and autism (\"Unique clinic\")<\/li>\n<\/ul>\n<p>You can read more about the syndromes and the research on the syndrome specific pages on this site.<\/p>\n<p>You can find additional information about the Elgersma<em>\u00a0<\/em>laboratory <a href=\"https:\/\/neuro.nl\/research\/elgersma\" target=\"_blank\" rel=\"noopener noreferrer\"><span style=\"text-decoration: underline;\"><em>here<\/em><\/span><\/a><\/p>\n<p>Additional information about the techniques used to determine whether a very rare mutation is pathogenic can be found <a href=\"https:\/\/functionalgenomics.nl\/\" target=\"_blank\" rel=\"noopener noreferrer\"><em><span style=\"text-decoration: underline;\">here<\/span><\/em><\/a>[\/vc_column_text][\/vc_tta_section][\/vc_tta_accordion][\/vc_column][\/vc_row]","protected":false},"excerpt":{"rendered":"<p>[vc_row][vc_column][vc_tta_accordion][vc_tta_section title=&#8221;Wetenschappelijk onderzoek binnen ENCORE&#8221; tab_id=&#8221;1586186294241-9100eed7-9da5&#8243;][vc_column_text]Wij zijn een academisch ziekenhuis. Dit betekent dat wij het belangrijk vinden wetenschappelijk onderzoek te doen naar de aandoeningen die wij op de polikliniek behandelen. Op deze manier vergroten we de kennis van de onderliggende oorzaak, diagnostiek en behandeling van de aandoeningen, en hopen we in de toekomst een betere [&hellip;]<\/p>","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":[],"_links":{"self":[{"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages\/3807"}],"collection":[{"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/comments?post=3807"}],"version-history":[{"count":16,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages\/3807\/revisions"}],"predecessor-version":[{"id":4710,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages\/3807\/revisions\/4710"}],"wp:attachment":[{"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/media?parent=3807"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}