{"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":"[vc_row][vc_column][vc_tta_accordion][vc_tta_section title=&#8221;Over ENCORE&#8221; tab_id=&#8221;1586186294241-9100eed7-9da5&#8243;][vc_column_text]Het Expertisecentrum 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>). Door het combineren van basaal en klinisch onderzoek probeert ENCORE meer inzicht te verkrijgen in de aandoeningen, de behandeling te verbeteren en daarmee uiteindelijk de kwaliteit van leven te verbeteren voor de pati\u00ebnt.[\/vc_column_text][\/vc_tta_section][vc_tta_section title=&#8221;Wie zijn wij?&#8221; tab_id=&#8221;1604924504186-c1208705-55aa&#8221;][vc_column_text]ENCORE wordt geleid door Dr. Marie-Claire de Wit (Hoofd ENCORE-Kliniek) en Prof.dr. Ype Elgersma (Hoofd ENCORE-Onderzoek).<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[\/vc_column_text][\/vc_tta_section][vc_tta_section title=&#8221;Wat bieden wij?&#8221; tab_id=&#8221;1594048876810-cd9f7e66-1f41&#8243;][vc_column_text]We willen de kwaliteit van leven verbeteren van pati\u00ebnten waarbij een erfelijke (aangeboren) cognitieve ontwikkelingsstoornis is vastgesteld. Dit doen we door het leveren van specialistische zorg. We optimaliseren de pati\u00ebntenzorg door centrale, protocollaire follow-up. Op die manier hopen we te bereiken dat er een bundeling en verdere ontwikkeling van expertise optreedt. Daarnaast streven we naar een betere afstemming van beleid tussen de verschillende betrokken specialisten binnen en buiten het Sophia. Voor het kind en ouders is het belangrijk dat alle consulten en onderzoeken zoveel mogelijk op \u00e9\u00e9n dag zullen plaatsvinden. Tot slot biedt het centrum de mogelijkheid van deelname aan wetenschappelijk onderzoek om meer inzicht te krijgen in de aandoening en om daarmee de behandeling van de aandoening en de diagnose te verbeteren. We richten ons in eerste instantie op de kinderen. Als de pati\u00ebnten 18 jaar zijn dragen we hen over aan experts uit de volwassen geneeskunde (transitie 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\" \/>[\/vc_column_text][\/vc_tta_section][vc_tta_section title=&#8221;Doelstellingen&#8221; tab_id=&#8221;1586186294252-ac64d084-0917&#8243;][vc_column_text]\n<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\" \/>[\/vc_column_text][\/vc_tta_section][vc_tta_section title=&#8221;Aandachtsgebieden&#8221; tab_id=&#8221;1592808029546-41da0686-e818&#8243;][vc_column_text]Binnen ENCORE richten we 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. Omdat er honderden verschillende genen betrokken zijn bij de ontwikkeling van de hersenen, hebben we een aantal aandachtsgebieden gedefinieerd:<\/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>Op deze\u00a0site kunt u meer informatie vinden over deze aandoeningen en poli\u2019s. Tevens kunt u lezen wat voor onderzoek er gedaan wordt naar deze aandoeningen.[\/vc_column_text][\/vc_tta_section][vc_tta_section title=&#8221;Internationale samenwerking&#8221; tab_id=&#8221;1593507205184-13520813-3786&#8243;][vc_column_text]<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\" \/>[\/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;Over ENCORE&#8221; tab_id=&#8221;1586186294241-9100eed7-9da5&#8243;][vc_column_text]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 [&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\/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}]}}