{"id":3284,"date":"2016-11-04T11:56:58","date_gmt":"2016-11-04T11:56:58","guid":{"rendered":"http:\/\/www.aivahthemes.com\/wp\/labora\/?page_id=3284"},"modified":"2025-09-22T18:31:27","modified_gmt":"2025-09-22T16:31:27","slug":"over-encore","status":"publish","type":"page","link":"https:\/\/encore-expertisecentrum.nl\/en\/over-encore\/","title":{"rendered":"About ENCORE"},"content":{"rendered":"<div class=\"vc_row wpb_row vc_row-fluid\"><div class=\"\"  ><div class=\"wpb_column vc_column_container vc_col-sm-12\"><div class=\"vc_column-inner\"><div class=\"wpb_wrapper\"><div class=\"vc_tta-container\" data-vc-action=\"collapse\"><div class=\"vc_general vc_tta vc_tta-accordion vc_tta-color-grey vc_tta-style-classic vc_tta-shape-rounded vc_tta-o-shape-group vc_tta-controls-align-left\"><div class=\"vc_tta-panels-container\"><div class=\"vc_tta-panels\"><div class=\"vc_tta-panel vc_active\" id=\"1586186294241-9100eed7-9da5\" data-vc-content=\".vc_tta-panel-body\"><div class=\"vc_tta-panel-heading\"><h4 class=\"vc_tta-panel-title vc_tta-controls-icon-position-left\"><a href=\"#1586186294241-9100eed7-9da5\" data-vc-accordion data-vc-container=\".vc_tta-container\"><span class=\"vc_tta-title-text\">About ENCORE<\/span><i class=\"vc_tta-controls-icon vc_tta-controls-icon-plus\"><\/i><\/a><\/h4><\/div><div class=\"vc_tta-panel-body\">\n\t<div class=\"wpb_text_column wpb_content_element\" >\n\t\t<div class=\"wpb_wrapper\">\n\t\t\t<p>The Expertise center ENCORE (<strong>E<\/strong>rfelijke <strong>N<\/strong>euro-<strong>C<\/strong>ognitieve <strong>O<\/strong>ntwikkelingsstoornissen, <strong>R<\/strong>otterdam, <strong>E<\/strong>rasmus MC\u2019) was founded in 2010. Within the Erasmus MC-Sophia Children's Hospital, it bundles expertise in the field of rare congenital disorders in which a cognitive developmental disorder occurs.<\/p>\n<p>First and foremost, ENCORE offers highly specialized care and diagnostics to these patients. However, ENCORE also wants to takes this one step further (the English meaning of 'ENCORE' is<em>'successful sequel'<\/em>). By combining basic and clinical research, ENCORE tries to gain more insight into the disorders, improve treatment and thus ultimately improve the quality of life for the patient.<\/p>\n\n\t\t<\/div>\n\t<\/div>\n<\/div><\/div><div class=\"vc_tta-panel\" id=\"1604924504186-c1208705-55aa\" data-vc-content=\".vc_tta-panel-body\"><div class=\"vc_tta-panel-heading\"><h4 class=\"vc_tta-panel-title vc_tta-controls-icon-position-left\"><a href=\"#1604924504186-c1208705-55aa\" data-vc-accordion data-vc-container=\".vc_tta-container\"><span class=\"vc_tta-title-text\">Who are we?<\/span><i class=\"vc_tta-controls-icon vc_tta-controls-icon-plus\"><\/i><\/a><\/h4><\/div><div class=\"vc_tta-panel-body\">\n\t<div class=\"wpb_text_column wpb_content_element\" >\n\t\t<div class=\"wpb_wrapper\">\n\t\t\t<p>ENCORE is led by Dr. Marie-Claire de Wit (Head of ENCORE Clinic) and Prof.dr. Ype Elgersma (Head of ENCORE Research).<img loading=\"lazy\" class=\"wp-image-5022 size-full\" src=\"https:\/\/encore-expertisecentrum.nl\/wp-content\/uploads\/2022\/11\/Portretten.png\" alt=\"\" width=\"842\" height=\"596\" srcset=\"https:\/\/encore-expertisecentrum.nl\/wp-content\/uploads\/2022\/11\/Portretten.png 842w, https:\/\/encore-expertisecentrum.nl\/wp-content\/uploads\/2022\/11\/Portretten-300x212.png 300w, https:\/\/encore-expertisecentrum.nl\/wp-content\/uploads\/2022\/11\/Portretten-768x544.png 768w, https:\/\/encore-expertisecentrum.nl\/wp-content\/uploads\/2022\/11\/Portretten-16x12.png 16w\" sizes=\"(max-width: 842px) 100vw, 842px\" \/><\/p>\n<p>Dr. Marie-Claire de Wit &amp; Prof. Dr. Ype Elgersma<\/p>\n<p>&nbsp;<\/p>\n<p>ENCORE consists of a very enthusiastic team with broad expertise. The doctors involved in a specific expertise center can be found on the syndrome-specific pages. Below is an overview of the entire ENCORE team:<\/p>\n<p><strong>Research leaders Preclinical research<br \/>\n<\/strong>Dr. Arjan Theil<br \/>\nDr. Ben Distel<br \/>\nDr. Dick Jaarsma<br \/>\nDr. Femke de Vrij<br \/>\nDr. Geeske van Woerden<br \/>\nDr. Stefan Barakat<br \/>\nProf. dr. Steven Kushner<br \/>\nProf. dr. Wim Vermeulen<br \/>\nProf. dr. Ype Elgersma<\/p>\n<p><strong>Pediatricians<br \/>\n<\/strong>Drs. Barbara Sibbles<br \/>\nDr. Danielle Veenma<br \/>\nDr. Karen Bindels-de Heus<br \/>\nDr. Rianne Oostenbrink<br \/>\nDr. Margreth van der Lugt<\/p>\n<p><strong>(Pediatric) neurologists<br \/>\n<\/strong>Dr. Evita Medici \u2013 van den Herik<br \/>\nDr. Marie-Claire de Wit<br \/>\nDrs. Suzanne Koudijs<br \/>\nDr. Walter Taal<\/p>\n<p><strong>Remedial educationalist<br \/>\n<\/strong>Dr. Maartje ten Hooven-Radstaake<br \/>\nDr. Nienke Bouw<\/p>\n<p><strong>Speech therapist<br \/>\n<\/strong>Cindy Navis<\/p>\n<p><strong>Physiotherapist<br \/>\n<\/strong>Laurentine Kamminga \u2013 van Wessem<br \/>\nLina van Dongen<br \/>\nEline Kuijpers<\/p>\n<p><strong>(Child) psychiatrists<br \/>\n<\/strong>Dr. Bram Dierckx<br \/>\nDr. Gwen Dieleman<br \/>\nDrs. Leontine ten Hoopen<br \/>\nDr. Michiel Coesmans<br \/>\nDr. Pieter de Nijs<\/p>\n<p><strong>Psychologists<br \/>\n<\/strong>Dr. Andr\u00e9 Rietman<br \/>\nDr. Sabine Mous<\/p>\n<p><strong>Clinical Geneticists<br \/>\n<\/strong>Dr. Alice Brooks<br \/>\nDr. Anneke Kievit<br \/>\nDr. Mark Nellist<br \/>\nDr. Rick van Minkelen<br \/>\nDr. S. Zeidler<br \/>\nM. van Vliet<br \/>\nDr. Yvette van Ierland<br \/>\nDr. Stefan Barakat<br \/>\nDr. Margot Reijnders<\/p>\n<p><strong>GDPR doctors<br \/>\n<\/strong>Dr. Anja Kattentidt<br \/>\nDr. Marlies Valstar<br \/>\nDr. Lianne Krab<br \/>\nDr. Rogier Kersseboom<\/p>\n<p><strong>Rehabilitation doctor<br \/>\n<\/strong>Dr. Sandra Titulaer<\/p>\n<p><strong>Internal medicine<br \/>\n<\/strong>Dr. Laura de Graaff, internist-endocrinologist EAA<br \/>\nJanneke Baan, internist-geriatric medicine EAA<\/p>\n<p><strong>Dermatologists<br \/>\n<\/strong>Dr. Marlies Wakkee<br \/>\nProf. dr. Suzanne Pasmans<\/p>\n<p><strong>Pediatric Dietitian<br \/>\n<\/strong>Drs. Joanne Olieman<\/p>\n<p><strong>Nursing specialists<br \/>\n<\/strong>Martine Broekema<br \/>\nSarah van Dijk<br \/>\nTanja Nuiten<br \/>\nBrigit Roest-Crollius<\/p>\n<p><strong>Ophthalmologist (eye doctor):<br \/>\n<\/strong>Dr. Nicole Naus<\/p>\n<p><strong>Radiologist<br \/>\n<\/strong>Dr. Marjolein Dremmen<\/p>\n<p><strong>Epilepsy nurse<br \/>\n<\/strong>J.E. Rietveld<\/p>\n\n\t\t<\/div>\n\t<\/div>\n<\/div><\/div><div class=\"vc_tta-panel\" id=\"1594048876810-cd9f7e66-1f41\" data-vc-content=\".vc_tta-panel-body\"><div class=\"vc_tta-panel-heading\"><h4 class=\"vc_tta-panel-title vc_tta-controls-icon-position-left\"><a href=\"#1594048876810-cd9f7e66-1f41\" data-vc-accordion data-vc-container=\".vc_tta-container\"><span class=\"vc_tta-title-text\">What do we offer?<\/span><i class=\"vc_tta-controls-icon vc_tta-controls-icon-plus\"><\/i><\/a><\/h4><\/div><div class=\"vc_tta-panel-body\">\n\t<div class=\"wpb_text_column wpb_content_element\" >\n\t\t<div class=\"wpb_wrapper\">\n\t\t\t<p>We want to improve the quality of life of patients diagnosed with a hereditary (congenital) cognitive developmental disorder. We do this by providing highly specialized care. We optimize patient care through systematic patient follow-up. In this way we hope to develop more expertise. In addition, we strive for better coordination between the various involved specialists within Erasmus MC-Sophia Children's Hospital. It is important for both child and parents that all consultations and examinations take place in one day as much as possible. Finally, the center offers the opportunity to participate in scientific research to gain more insight into the condition and thus improve the treatment of the condition and the diagnosis. We focus primarily on children. When the patients are 18 years old, they will transition to experts from adult medicine (transition poli).<img loading=\"lazy\" class=\"alignleft wp-image-4221 size-large\" src=\"https:\/\/encore-expertisecentrum.nl\/wp-content\/uploads\/2020\/07\/Angelman-Syndroom-EAS-kort_02.00_02_56_07.Still003-1024x576.png\" alt=\"\" width=\"1024\" height=\"576\" srcset=\"https:\/\/encore-expertisecentrum.nl\/wp-content\/uploads\/2020\/07\/Angelman-Syndroom-EAS-kort_02.00_02_56_07.Still003-1024x576.png 1024w, https:\/\/encore-expertisecentrum.nl\/wp-content\/uploads\/2020\/07\/Angelman-Syndroom-EAS-kort_02.00_02_56_07.Still003-300x169.png 300w, https:\/\/encore-expertisecentrum.nl\/wp-content\/uploads\/2020\/07\/Angelman-Syndroom-EAS-kort_02.00_02_56_07.Still003-768x432.png 768w, https:\/\/encore-expertisecentrum.nl\/wp-content\/uploads\/2020\/07\/Angelman-Syndroom-EAS-kort_02.00_02_56_07.Still003-1536x864.png 1536w, https:\/\/encore-expertisecentrum.nl\/wp-content\/uploads\/2020\/07\/Angelman-Syndroom-EAS-kort_02.00_02_56_07.Still003.png 1800w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/p>\n\n\t\t<\/div>\n\t<\/div>\n<\/div><\/div><div class=\"vc_tta-panel\" id=\"1586186294252-ac64d084-0917\" data-vc-content=\".vc_tta-panel-body\"><div class=\"vc_tta-panel-heading\"><h4 class=\"vc_tta-panel-title vc_tta-controls-icon-position-left\"><a href=\"#1586186294252-ac64d084-0917\" data-vc-accordion data-vc-container=\".vc_tta-container\"><span class=\"vc_tta-title-text\">Targets<\/span><i class=\"vc_tta-controls-icon vc_tta-controls-icon-plus\"><\/i><\/a><\/h4><\/div><div class=\"vc_tta-panel-body\">\n\t<div class=\"wpb_text_column wpb_content_element\" >\n\t\t<div class=\"wpb_wrapper\">\n\t\t\t<ul>\n<li>Guaranteeing specialized, multidisciplinary care and knowledge under one roof, centered around patient needs<\/li>\n<li>To be internationally leading (and visible) in the treatment and follow-up of hereditary neurodevelopmental disorders (healthcare innovation).<\/li>\n<li>To conduct internationally leading research into neurodevelopment disorders.<\/li>\n<li>Transfer knowledge to patients and family members and to external practitioners, paramedics and doctors in training<\/li>\n<li>Promote the interaction between research groups and health care practitioners (national and international) so that breakthroughs in research and treatment can be realized<\/li>\n<li>Establishing good care for patients after the age<sup> st<\/sup> 18<\/li>\n<li>Provide an accessible platform for the start-up of new specialized multidisciplinary expertise centers, for conditions that fall within the clinical and scientific expertise of ENCORE<\/li>\n<\/ul>\n<p><img loading=\"lazy\" class=\"alignleft size-full wp-image-4741\" src=\"https:\/\/encore-expertisecentrum.nl\/wp-content\/uploads\/2020\/11\/Wordcloud-ENG@3x.png\" alt=\"\" width=\"2526\" height=\"1787\" srcset=\"https:\/\/encore-expertisecentrum.nl\/wp-content\/uploads\/2020\/11\/Wordcloud-ENG@3x.png 2526w, https:\/\/encore-expertisecentrum.nl\/wp-content\/uploads\/2020\/11\/Wordcloud-ENG@3x-300x212.png 300w, https:\/\/encore-expertisecentrum.nl\/wp-content\/uploads\/2020\/11\/Wordcloud-ENG@3x-1024x724.png 1024w, https:\/\/encore-expertisecentrum.nl\/wp-content\/uploads\/2020\/11\/Wordcloud-ENG@3x-768x543.png 768w, https:\/\/encore-expertisecentrum.nl\/wp-content\/uploads\/2020\/11\/Wordcloud-ENG@3x-1536x1087.png 1536w, https:\/\/encore-expertisecentrum.nl\/wp-content\/uploads\/2020\/11\/Wordcloud-ENG@3x-2048x1449.png 2048w, https:\/\/encore-expertisecentrum.nl\/wp-content\/uploads\/2020\/11\/Wordcloud-ENG@3x-16x12.png 16w\" sizes=\"(max-width: 2526px) 100vw, 2526px\" \/><\/p>\n\n\t\t<\/div>\n\t<\/div>\n<\/div><\/div><div class=\"vc_tta-panel\" id=\"1592808029546-41da0686-e818\" data-vc-content=\".vc_tta-panel-body\"><div class=\"vc_tta-panel-heading\"><h4 class=\"vc_tta-panel-title vc_tta-controls-icon-position-left\"><a href=\"#1592808029546-41da0686-e818\" data-vc-accordion data-vc-container=\".vc_tta-container\"><span class=\"vc_tta-title-text\">Focus Areas<\/span><i class=\"vc_tta-controls-icon vc_tta-controls-icon-plus\"><\/i><\/a><\/h4><\/div><div class=\"vc_tta-panel-body\">\n\t<div class=\"wpb_text_column wpb_content_element\" >\n\t\t<div class=\"wpb_wrapper\">\n\t\t\t<p>Within ENCORE we focus on genetic disorders that cause a disruption of normal (neuro)development and therefore lead to intellectual disability, epilepsy and \/ or behavioral problems (including autism). The care is combined with basic and translational research into the underlying pathophysiological mechanisms and development of treatments. Since there are hundreds of different genes involved in brain development, we have defined two specific areas of interest:<\/p>\n<ol>\n<li>Mutations in 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). In addition to mutations in the RAS-PI3K-MTOR intracellular signaling pathway, this also includes mutations in genes involved in DNA repair. The expertise centers include:<\/li>\n<\/ol>\n<ul>\n<li><span style=\"text-decoration: underline;\"><a href=\"https:\/\/encore-expertisecentrum.nl\/en\/cases\/cerebrale-overgroei-syndromen\/\">Brain Overgrowth Syndromes<\/a><\/span><\/li>\n<li><span style=\"text-decoration: underline;\"><a href=\"https:\/\/encore-expertisecentrum.nl\/en\/cases\/corticale-malformaties\/\">Cortical malformations (MCD)<\/a><\/span><\/li>\n<li><span style=\"text-decoration: underline;\"><a href=\"https:\/\/encore-expertisecentrum.nl\/en\/cases\/costello-cfc\/\">Cardio-Facio-Cutaneous (CFC) Syndrome and Costello Syndrome (CS)<\/a><\/span><\/li>\n<li><span style=\"text-decoration: underline;\"><a href=\"https:\/\/encore-expertisecentrum.nl\/en\/cases\/dna-repair\/\">DNA repair disorders<\/a><\/span><\/li>\n<li><span style=\"text-decoration: underline;\"><a href=\"https:\/\/encore-expertisecentrum.nl\/en\/cases\/neurofibromatose-type-1-nf1\/\">Neurofibromatosis type 1 (NF1)<\/a><\/span><\/li>\n<li><span style=\"text-decoration: underline;\"><a href=\"https:\/\/encore-expertisecentrum.nl\/en\/cases\/sturge-weber\/\">Sturge-Weber<\/a><\/span><\/li>\n<li><a href=\"https:\/\/encore-expertisecentrum.nl\/en\/cases\/tubereuze-sclerose-complex-tsc\/\"><span style=\"text-decoration: underline;\">Tuberous Sclerosis Complex (TSC)<\/span><\/a><\/li>\n<\/ul>\n<ol start=\"2\">\n<li>Genes that have a direct effect on signal transmission between brain cells (\"synaptic plasticity\"). This includes the following conditions:<\/li>\n<\/ol>\n<ul>\n<li><span style=\"text-decoration: underline;\"><a href=\"https:\/\/encore-expertisecentrum.nl\/en\/cases\/about-angelman-syndroom\/\">Angelman Syndrome (AS)<\/a><\/span><\/li>\n<li><span style=\"text-decoration: underline;\"><a href=\"https:\/\/encore-expertisecentrum.nl\/en\/cases\/camk2\/\">CAMK2 Syndrome<\/a><\/span><\/li>\n<li><span style=\"text-decoration: underline;\"><a href=\"https:\/\/encore-expertisecentrum.nl\/en\/cases\/dup15q\/\">Dup15q Syndrome<\/a><\/span><\/li>\n<li><span style=\"text-decoration: underline;\"><a href=\"https:\/\/encore-expertisecentrum.nl\/en\/cases\/fragiele-x\/\">Fragile X Syndrome (FXS)<\/a>\u00a0<\/span><\/li>\n<li><span style=\"text-decoration: underline;\"><a href=\"https:\/\/encore-expertisecentrum.nl\/en\/cases\/syngap\/\">SYNGAP1 Syndrome<\/a><\/span><\/li>\n<li><span style=\"text-decoration: underline;\"><a href=\"https:\/\/encore-expertisecentrum.nl\/en\/cases\/grin-syndroom\/\">Glutamate receptor syndromes (GRIN, GRIA)<\/a><\/span><\/li>\n<li><span style=\"text-decoration: underline;\"><a href=\"https:\/\/encore-expertisecentrum.nl\/en\/cases\/uniek-zeldzame-autisme\/\">(Ultra) rare genetic disorders that lead to developmental disorders and autism (\"Unique clinic\")<\/a><\/span><\/li>\n<\/ul>\n<p>On this site you can find more information about these conditions and clinics. You can also read what research is being done into these conditions.<\/p>\n\n\t\t<\/div>\n\t<\/div>\n<\/div><\/div><div class=\"vc_tta-panel\" id=\"1593507205184-13520813-3786\" data-vc-content=\".vc_tta-panel-body\"><div class=\"vc_tta-panel-heading\"><h4 class=\"vc_tta-panel-title vc_tta-controls-icon-position-left\"><a href=\"#1593507205184-13520813-3786\" data-vc-accordion data-vc-container=\".vc_tta-container\"><span class=\"vc_tta-title-text\">International cooperation<\/span><i class=\"vc_tta-controls-icon vc_tta-controls-icon-plus\"><\/i><\/a><\/h4><\/div><div class=\"vc_tta-panel-body\">\n\t<div class=\"wpb_text_column wpb_content_element\" >\n\t\t<div class=\"wpb_wrapper\">\n\t\t\t<p><span style=\"font-style: normal !msorm;\">ENCORE<\/span> works closely with researchers \/ doctors in the Netherlands and worldwide.<\/p>\n<p><span style=\"font-style: normal !msorm;\">ENCORE <\/span>is a European Reference Center and is affiliated with the European Reference Networks (ERN) ITHACA and GENTURIS.<\/p>\n<p><img loading=\"lazy\" class=\"alignleft wp-image-4293\" src=\"https:\/\/encore-expertisecentrum.nl\/wp-content\/uploads\/2020\/08\/ERC-logos-2-300x51.png\" alt=\"\" width=\"589\" height=\"100\" srcset=\"https:\/\/encore-expertisecentrum.nl\/wp-content\/uploads\/2020\/08\/ERC-logos-2-300x51.png 300w, https:\/\/encore-expertisecentrum.nl\/wp-content\/uploads\/2020\/08\/ERC-logos-2-768x130.png 768w, https:\/\/encore-expertisecentrum.nl\/wp-content\/uploads\/2020\/08\/ERC-logos-2.png 842w\" sizes=\"(max-width: 589px) 100vw, 589px\" \/><\/p>\n\n\t\t<\/div>\n\t<\/div>\n<\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div>","protected":false},"excerpt":{"rendered":"Over ENCORE Het Expertisecentrum ENCORE (Erfelijke Neuro-Cognitieve Ontwikkelingsstoornissen, Rotterdam, Erasmus MC) is in 2010 opgericht. Het bundelt vanuit het Erasmus MC-Sophia Kinderziekenhuis de expertise op het gebied van zeldzame aangeboren aandoeningen, waarbij een cognitieve ontwikkelingsstoornis optreedt. ENCORE biedt allereerst hoog specialistische zorg en diagnostiek aan deze pati\u00ebnten. Echter, ENCORE wil nadrukkelijk nog een stap verder [...]","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\/3284"}],"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=3284"}],"version-history":[{"count":53,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages\/3284\/revisions"}],"predecessor-version":[{"id":5366,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages\/3284\/revisions\/5366"}],"wp:attachment":[{"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/media?parent=3284"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}