{"id":397,"date":"2022-02-08T13:28:24","date_gmt":"2022-02-08T12:28:24","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?post_type=expert-centers&#038;p=397"},"modified":"2026-04-16T10:59:04","modified_gmt":"2026-04-16T08:59:04","slug":"ern-ithaca-paris-center-robert-debre-university-hospital","status":"publish","type":"expert-centers","link":"https:\/\/ern-ithaca.eu\/it\/about-us\/expert-centers\/ern-ithaca-paris-center-robert-debre-university-hospital\/","title":{"rendered":"ERN-ITHACA \u2013 Centro di Parigi"},"content":{"rendered":"<figure class=\"wp-block-image size-full is-resized\"><img loading=\"lazy\" decoding=\"async\" width=\"768\" height=\"511\" src=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Hopital-Robert-Debre-Paris.jpeg\" alt=\"\" class=\"wp-image-399\" style=\"width:384px;height:256px\" srcset=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Hopital-Robert-Debre-Paris.jpeg 768w, https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Hopital-Robert-Debre-Paris-600x399.jpeg 600w\" sizes=\"auto, (max-width: 768px) 100vw, 768px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">D\u00e9partement de G\u00e9n\u00e9tique<br>APHP Nord-Universit\u00e9 de Paris \u2013 H\u00f4pital Robert Debr\u00e9<br>48 boulevard S\u00e9rurier<br>75019 PARIS<br>FRANCE<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"lead\">Piombo<\/h2>\n\n\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-8f761849 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-vertically-aligned-center is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:15%\">\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"459\" height=\"647\" src=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Pr-Alain-Verloes.jpeg\" alt=\"\" class=\"wp-image-398\" srcset=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Pr-Alain-Verloes.jpeg 459w, https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Pr-Alain-Verloes-426x600.jpeg 426w\" sizes=\"auto, (max-width: 459px) 100vw, 459px\" \/><\/figure>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-vertically-aligned-center is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:85%\">\n<p class=\"wp-block-paragraph\"><strong>Pr Alain Verloes (ERN ITHACA EU coordinator)<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Telefono<\/strong>: +33 (0)1 40 03 53 06<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Posta<\/strong>:&nbsp;<a href=\"mailto:coordination@ern-ithaca.eu\">coordination@ern-ithaca.eu<\/a><\/p>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\">Data Protection Officer<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>E-mail<\/strong>:\u00a0<a href=\"mailto:coordination@ern-ithaca.eu\">coordination@ern-ithaca.eu<\/a><\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"scope\">Ambito di applicazione<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">The area of expertise of the Paris Centre of the ITHACA European Reference Network (ERN) covers all syndromes exhibiting developmental anomalies and\/or intellectual disability (ID). About 1\/40 newborn has a congenital malformation (261\/10000 fetuses and newborn following EuroCAt reports), and 1\/40 has ID. Therefore, 3 to 5 % of all human births show or will develop a developmental anomaly, among which at least 25-50% are of genetic or genomic origin. This huge population represents in reality the juxtaposition of a very large number of individually rare disorders showing an extreme diversity of causes and phenotypes. The jurisdiction and scope of expertise of Paris ITHACA Centre includes:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>oltre 5.500 sindromi dismorfiche e di anomalie congenite multiple (MCA) (elencate nel London Dysmorphology Database), tra cui oltre 3.000 malattie monogeniche, tutte le anomalie cromosomiche (la maggior parte delle quali rilevabili solo tramite tecnologie di array), anomalie dismorfologiche multifattoriali e sporadiche ed embriopatie di origine ambientale<\/li>\n\n\n\n<li>&gt;1.500 forme monogeniche e centinaia di forme cromosomiche di ritardo mentale, con o senza disturbo dello spettro autistico (ASD) associato<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"service-to-patients\">Assistenza ai pazienti<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">The regional population covered by the Paris Centre counts more than 12 million inhabitants. Moreover, about 10% of the patients seen in the Centre are referred from other French regions or from foreign countries. The Centre contributes to the care to patients by offering clinical diagnosis, genetic testing, familial screening, genetic counseling, neuropsychological and neuropsychiatric evaluation, prenatal diagnosis, follow up and coordination of the day care and reeducation of patients, and therapeutic assays in the field of developmental anomalies, in connexion with two National Heathcare networks (AnDDI-Rares and DefiScience).<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"organization-of-the-ithaca-ern-paris-centre\">Organization of the ITHACA ERN \u2013 Paris Centre<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"the-assistance-publique-hopitaux-de-paris-aphp\">The&nbsp;Assistance Publique-H\u00f4pitaux de Paris&nbsp;(APHP)<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">APHP is a public health establishment and a university hospital trust (CHU) operating in Paris and its surroundings ( Ile-de-France region \u2013 12 million inhabitants). It is the largest HCP in Europe : more than 20.000 beds, over 5 million consultations and 1,5 million emergencies\/year). APHP is also the largest employer in Ile-de-France: 100,000 people \u2013 including 16.000 doctors, researchers, paramedics, socio-educational and administrative staff and workers work there.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">APHP is organized around six hospital local trusts (GH), including Bic\u00eatre (BCT) University Hospitals, each associated to a medical school to offer integrative care to its population, each made up of several hospitals, four of which contribute to ITHACA: <\/p>\n\n\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-8f761849 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\">\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"1280\" height=\"398\" src=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Hopital-Robert-Debre-Paris-1.jpeg\" alt=\"\" class=\"wp-image-1294\" srcset=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Hopital-Robert-Debre-Paris-1.jpeg 1280w, https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Hopital-Robert-Debre-Paris-1-600x187.jpeg 600w, https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Hopital-Robert-Debre-Paris-1-768x239.jpeg 768w\" sizes=\"auto, (max-width: 1280px) 100vw, 1280px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Robert Debr\u00e9 (RDB)<\/strong><\/p>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\">\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1900\" height=\"1266\" src=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/hopital-necker-paris-1900x1266.png\" alt=\"\" class=\"wp-image-1295\" srcset=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/hopital-necker-paris-1900x1266.png 1900w, https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/hopital-necker-paris-600x400.png 600w, https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/hopital-necker-paris-768x512.png 768w, https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/hopital-necker-paris-1536x1023.png 1536w, https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/hopital-necker-paris-1320x880.png 1320w, https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/hopital-necker-paris.png 1990w\" sizes=\"auto, (max-width: 1900px) 100vw, 1900px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Necker-Enfants Malades (NCK)<\/strong><\/p>\n<\/div>\n<\/div>\n\n\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-8f761849 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\">\n<figure class=\"wp-block-image size-full is-resized\"><img loading=\"lazy\" decoding=\"async\" width=\"386\" height=\"218\" src=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/hopital-armand-trousseau-paris.jpeg\" alt=\"\" class=\"wp-image-1296\" style=\"width:387px;height:219px\"\/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Armand Trousseau (TRS)<\/strong><\/p>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\">\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"1500\" height=\"1191\" src=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Hopital-de-la-Salpetriere.jpeg\" alt=\"\" class=\"wp-image-1297\" srcset=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Hopital-de-la-Salpetriere.jpeg 1500w, https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Hopital-de-la-Salpetriere-600x476.jpeg 600w, https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Hopital-de-la-Salpetriere-768x610.jpeg 768w, https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Hopital-de-la-Salpetriere-1320x1048.jpeg 1320w\" sizes=\"auto, (max-width: 1500px) 100vw, 1500px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Piti\u00e9-Salp\u00eatri\u00e8re (PSL)<\/strong><\/p>\n<\/div>\n<\/div>\n\n\n\n<p class=\"wp-block-paragraph\">Altogether, these 4 hospitals count over 1100 pediatric beds, over 2100 beds for adults (mostly in PSL), and 5 maternity wards with over 12000 births\/year.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">The general expertise of APHP in the field of rare diseases has been recognized at a national level, as departments in APHP harbour more than 60 national reference centers for rare diseases (RCRD).<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"structure-of-the-ithaca-ern-paris-aphp-centre\">Structure of the ITHACA ERN \u2013 Paris APHP Centre<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>The APHP consortium is led by Alain Verloes (ERN ITHACA EU coordinator)<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Department of Genetics, AP-HP. Nord Universit\u00e9 de Paris \u2013 Robert Debr\u00e9 University Hospital<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">48 boulevard S\u00e9rurier \u2013 75019 PARIS<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">In the ERN-ITHACA project is organized around five national Reference or Excellence Centres connected to three Universities, covering four scientific and medical axes:<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>Developmental anomalies<\/li>\n<\/ol>\n\n\n\n<p class=\"wp-block-paragraph\">RCRD for developmental anomalies and intellectual disability (AnDDI-Rares)<\/p>\n\n\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-8f761849 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:85%\">\n<ul id=\"block-8ce21788-9f52-4371-8738-9061f77de7c4\" class=\"wp-block-list\">\n<li>Pr Alain VERLOES, Department of Genetics, AP-HP.Nord \u2013 University of Paris \u2013 Robert Debr\u00e9 Hospital (RDB) \u2013 coordinator of the RCRD<\/li>\n\n\n\n<li>Pr Jeanne AMIEL, Department of Clinical Genetics, AP-HP.Centre \u2013 Universit\u00e9 de Paris\u00a0;\u00a0<a href=\"https:\/\/www.aphp.fr\/contenu\/hopital-universitaire-necker-enfants-malades-1\">Necker<\/a>\u00a0Hospital (NCK)<\/li>\n\n\n\n<li>Daphne LEHALLE, Department of Genetics, AP-HP.Sorbonne University \u2013 Trousseau &amp; Hospitals (TRS)<a id=\"_msocom_1\"><\/a><\/li>\n<\/ul>\n<\/div>\n<\/div>\n\n\n\n<ol start=\"2\" class=\"wp-block-list\">\n<li>Intellectual disability<\/li>\n<\/ol>\n\n\n\n<p class=\"wp-block-paragraph\">RCRD for rare causes of intellectual disability (D\u00e9fiScience)<\/p>\n\n\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-8f761849 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:15%\">\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"662\" height=\"740\" src=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Dr-Delphine-Heron.png\" alt=\"\" class=\"wp-image-1301\" srcset=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Dr-Delphine-Heron.png 662w, https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Dr-Delphine-Heron-537x600.png 537w\" sizes=\"auto, (max-width: 662px) 100vw, 662px\" \/><figcaption class=\"wp-element-caption\">Dr Delphine H\u00e9ron<\/figcaption><\/figure>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:85%\">\n<ul id=\"block-79ccc29d-e4ff-4886-be4d-5c79dba96c41\" class=\"wp-block-list\">\n<li>Dr Delphine HERON, department of Genetics, AP-HP.Sorbonne University \u2013 Piti\u00e9-Salp\u00eatri\u00e8re Hospital (PSL) \u2013 Coordinator of the RCRD<\/li>\n\n\n\n<li>Dr Nadia BAHI BUISSON, Department of Child Neurology, AP-HP.Centre \u2013 University of Paris ; Necker Hospital (NCK)<\/li>\n\n\n\n<li>Dr Marl\u00e8ne RIO, Department of Genetics, AP-HP.Centre \u2013 University of Paris ; Necker Hospital (NCK)<\/li>\n\n\n\n<li>Dr St\u00e9phanie VALENCE, Department of Child Neurology, AP-HP.Sorbonne University- Trousseau Hospital (TRS)<\/li>\n\n\n\n<li>Dr David GERMANAUD, Department of Genetics, AP-HP.Nord \u2013 University \u2013 Robert Debr\u00e9 Hospital (RDB)<\/li>\n<\/ul>\n<\/div>\n<\/div>\n\n\n\n<ol start=\"3\" class=\"wp-block-list\">\n<li>Cerebellar anomalies<\/li>\n<\/ol>\n\n\n\n<p class=\"wp-block-paragraph\">RCRD : cerebellar anomalies (2M2C)<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Dr Lydie BURGLEN, Department of Child Neurology, AP-HP.Sorbonne University \u2013 Armand Trousseau Hospital (TRS), Coordinator of the RCRD<\/li>\n<\/ul>\n\n\n\n<ol start=\"4\" class=\"wp-block-list\">\n<li>Autism Spectrum Disorder (ASD)<\/li>\n<\/ol>\n\n\n\n<p class=\"wp-block-paragraph\">Center of Excellence for Autism and Neurodevelopmental Disorders (InovAND)<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Pr Richard DELORME, Department of Child and Adolescent Psychiatry, AP-HP.Nord \u2013 University \u2013 Robert Debr\u00e9 Hospital (RDB) , Coordinator of the CE<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">RCRD: rare disorders with psychiatric expression and early onset schizophrenia<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Pr David COHEN, Department of Child and Adolescent Psychiatry, AP-HP.Sorbonne University \u2013 Piti\u00e9-Salp\u00eatri\u00e8re Hospital (PSL) \u2013 coordinator of the RCRD<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>The RCRD for developmental anomalies of APHP Sorbonne Universit\u00e9<\/strong>&nbsp;is coordinated by&nbsp;<strong>Dr. Sandra Whalen,<\/strong>&nbsp;who is also the ERN-ITHACA representative for this center.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">The RCRD is composed of the clinical genetic units of&nbsp;<em>H\u00f4pital Armand Trousseau<\/em>&nbsp;and&nbsp;Groupe Hospitalier Piti\u00e9-Salp\u00eatri\u00e8re, with&nbsp;<strong>Dr. Delphine H\u00e9ron<\/strong>&nbsp;at the head of these two units.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">The RCRD for developmental anomalies is linked to the &nbsp;rare diseases national french network AnDDI-Rares (Anomalies du D\u00e9veloppement avec ou sans D\u00e9ficience Intellectuelle de Causes Rares).&nbsp;&nbsp; The center is dedicated to all patients with developmental anomalies and their families and is composed by a pluridisciplinary team of geneticists, pediatric neurologists, adult neurologist, genetic counsellors, psychologists, neuropsychologist and ARC (Attach\u00e9 de Recherche Clinique).<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">The major asset of the center is to provide care to all patients with developmental anomalies with or without intellectual disability, from the fetal cycle to adulthood, whether the diagnosis is known or not. The mission is to establish a diagnosis and provide genetic counselling, a follow up, and multidisciplinary care. Prenatal care is a major activity of the center, they are the referring geneticists of the pluridisciplinary center for prenatal diagnosis of APHP \u2013 Sorbonne Universit\u00e9, and see couples whose fetuses are diagnosed with (or are at risk of having) developmental anomalies. The children and adults are referred to us mainly by hospital specialists, but also by private physicians (general practitioners, specialists), primary care centers, specialised schools or homes for persons with disabilities, etc. For the pluridisciplinary care of our patients, we collaborate with specialists of the two hospitals of our center, H\u00f4pital Armand Trousseau for children, and Groupe Hospitalier Piti\u00e9-Salp\u00eatri\u00e8re for adults (cardiology, neurology, endocrinology, radiology, orthopedic, ophthalmology, ENT, pneumology, gastroenterology, nephrology, etc). Thus, we can provide appropriate child to adult transition, which is particularly important for rare diseases.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">The number of annual medical consultations of our center is around 1400.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>The RCDR Intellectual Disability<\/strong>&nbsp;is dedicated to all patients with intellectual disabilities, regardless of their severity (from mild ID to polyhandicap) and associated signs.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">It also assists families with one or more members presenting an ID, for genetic&nbsp;counselling, genetic diagnosis of asymptomatic persons at risk and the&nbsp;organisation&nbsp;of prenatal diagnosis if necessary.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">The&nbsp;Piti\u00e9&nbsp;Salp\u00eatri\u00e8re&nbsp;Hospital site (Dr Delphine&nbsp;H\u00e9ron) works in close collaboration with the Armand Trousseau Hospital site (coordinated by&nbsp;Pr&nbsp;Thierry&nbsp;Billette&nbsp;de&nbsp;Villemeur), to provide care for patients presenting an ID at all age groups, from the&nbsp;foetus&nbsp;to the ageing adult.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">The&nbsp;Piti\u00e9-Salp\u00eatri\u00e8re&nbsp;site is located in a hospital receiving mainly adults, and is located in the Medical Genetics department. Patients (children and adults) consult for etiological diagnostic research and\/or support. The team also ensures the transition to adulthood of children followed in the Paris&nbsp;paediatric&nbsp;sites.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">The active patient flow at the Piti\u00e9 Salp\u00eatri\u00e8re Hospital site is about 1500 patients.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Armand Trousseau\u2019s site is located in a children\u2019s hospital with a maternity unit and a Fetal Medicine Unit. The RCRD is located in the Neuropaediatrics and Clinical Genetics departments. It welcomes children of all ages consulting for psychomotor deficiency and\/or ID and specifically provides full inpatient care for polyhandicapped children with total dependency for all acts of everyday life and with medical instability that requires hospitalisation in a specialised environment (dedicated unit of the department at La Roche Guyon).<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">The active patient flow at the Armand Trousseau Hospital website is 777 patients.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">On both sites, the geneticists of the RCRD ID are contact points of the \u201cCentre Pluridisciplinaire de Diagnostic Pr\u00e9natal des H\u00f4pitaux APHP, Sorbonne Universit\u00e9\u201d, for couples whose foetuses are at risk of intellectual deficiency, in particular foetuses with cerebral malformations or polymalformative syndromes.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">At both sites, they also provide genetic&nbsp;counselling&nbsp;for relatives, and&nbsp;organise&nbsp;prenatal diagnosis for genetic neurodevelopmental diseases.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">On both sites:<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u2013 The medical and paramedical teams are multidisciplinary, including geneticists, neurologists,&nbsp;neuropaediatricians, genetic&nbsp;counsellors, neuropsychologists and psychologists,&nbsp;psychomotricians, occupational therapists,&nbsp;specialised&nbsp;educators, obstetricians, midwives\u2026. as well as clinical research attach\u00e9s for research.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u2013 The RCRD relies on a network of specialists (child psychiatrists, psychiatrists, doctors of physical medicine and rehabilitation, cardiologists, endocrinologists, radiologists, orthopaedists, ophthalmologists, otorhinolaryngologists\u2026) for adults on site at the Piti\u00e9 Salp\u00eatri\u00e8re and for children at the Armand Trousseau Hospital.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Both sites have privileged access to several technical platforms at the university hospital, allowing in particular access to new genetic techniques:<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u2013 Constitutional genetics (cytogenetics) and molecular genetics, providing access to high-speed sequencing techniques.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u2013&nbsp;Fetopathology, carrying out all morphological examinations of embryos and&nbsp;foetuses&nbsp;with a cerebral malformation and\/or at risk of DI and&nbsp;malformative&nbsp;syndromes.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u2013 Cerebral screening.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"research\">Research<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">The coordinating site has developed research around 5 main axes in the field of neurodevelopmental genetics in connection with several Research Units (INSERM and CNRS) or International Consortium (including IRC5 (International Research Consortium for the Corpus Callosum and Cerebral Connectivity), and the European Epilepsy Genetics Research Network&nbsp;EuroEPINOMICS) .<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">1.Identification of new genes responsible for isolated or associated intellectual deficiencies including epileptic&nbsp;encephalopathies&nbsp;and intellectual deficiencies with autism spectrum disorders.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">2.Identification of new genes or genetic mechanisms responsible for corpus callosum anomalies.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">3.Phenotyping&nbsp;and natural history of new syndromes with intellectual disabilities.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">4.Therapeutic trials and validation of new objective and quantitative evaluation criteria that can be used as&nbsp;judgement&nbsp;criteria in trials (Fragile X,&nbsp;Angelman&nbsp;syndrome and&nbsp;Rett&nbsp;syndrome).<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">5.Ethical and medico-economic issues related to new high throughput sequencing techniques.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"general-organization-of-the-ithaca-ern-paris-aphp-centre\">General organization of the ITHACA ERN \u2013 Paris APHP Centre<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">In the five constitutive hospitals, Paris setting of ITHACA offers full coverage of general and specialized cares for children, adults and pregnant women:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>4 departments of medical genetics offering genetic consultation for children and adults, and pregnant women (RDB, NCK TRS, PSL, BCT).<\/li>\n\n\n\n<li>4 departments of child neurology and metabolic disorders (RDB, TRS, NCK, BCT)<\/li>\n\n\n\n<li>3 department of child psychiatry offering multidisciplinary diagnosis, evaluation and care (including inpatient units) for ID and ASD children (RDB, NCK, PSL).<\/li>\n\n\n\n<li>Care to children: 4 hospitals (RDB, NCK, TRS, BCT) offer all facilities in general pediatrics and pediatric medical (cardiology, nephrology, endocrinology, neonatology\u2026) and surgical specialties (visceral, cardiac, neurosurgery, orthopedics, ENT, ophthalmology\u2026).<\/li>\n\n\n\n<li>Care to adults: PSL is a large adult hospital with all medical subspecialities, and a strong involvement in adult neurology and ID in adults<\/li>\n\n\n\n<li>Prenatal diagnosis (RDB, NCK, TRS, PSL, BCT) and fetal pathology (RDB, NCK)<\/li>\n\n\n\n<li>Full technical support, including classic medical laboratories, medical imaging, biological investigations, electrophysiology, genetic and genomic investigations including arrays and NGS, and fetal pathology.<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">Strong association with research institutes (IMAGINE in NCK, ICM in PSL, PROTECT in RDB) and several INSERM or CNRS units targeting neuroscience and\/or development, present in the 5 hospitals<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Supported by a dense network of Patient Organisations.<\/p>","protected":false},"featured_media":0,"template":"","tags":[],"country":[6],"center-status":[15],"class_list":["post-397","expert-centers","type-expert-centers","status-publish","hentry","country-france","center-status-full-member"],"acf":{"name-city":"Paris Center (Robert Debr\u00e9 University Hospital)","representative":"Pr Alain Verloes","latitude":"48.888250 ","longitude":"2.395850","keywords-search":""},"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.7 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>ERN-ITHACA -\u00a0Paris Center - ERN ITHACA<\/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:\/\/ern-ithaca.eu\/it\/about-us\/expert-centers\/ern-ithaca-paris-center-robert-debre-university-hospital\/\" \/>\n<meta property=\"og:locale\" content=\"it_IT\" \/>\n<meta property=\"og:type\" content=\"article\" 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