Robert Debré University Hospital

Lead: Pr Alain Verloes (ERN ITHACA EU coordinator)

Département de Génétique
APHP Nord-Université de Paris – Hôpital Robert Debré
48 boulevard Sérurier
75019 PARIS


Telephone: +33 (0)1 40 03 53 06

Fax:  +33 (0)1 40 03 22 77



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:

  • over 5500 dysmorphic and multiple congenital anomalie (MCA) syndromes (listed in the London Dysmorphology Database), among which over 3000 monogenic diseases, all chromosome abnormalities (most of them only detectable through array technologies), multifactorial, sporadic dysmorphological anomalies and embryofetopathies of environmental origin
  • >1500 monogenic and hundreds chromosomal forms of ID with or without associated autism spectrum disorder (ASD)

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).

Organization of the ITHACA ERN – Paris Centre

The Assistance Publique-Hôpitaux de Paris (APHP)

APHP is a public health establishment and a university hospital trust (CHU) operating in Paris and its surroundings ( Ile-de-France region – 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 – including 16.000 doctors, researchers, paramedics, socio-educational and administrative staff and workers work there.

APHP is organized around six hospital local trusts (GH), 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: Robert Debré (RDB), Necker-Enfants Malades (NCK), Armand Trousseau (TRS), Pitié-Salpêtrière (PSL), and Bicêtre (BCT) University Hospitals.

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.

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).

Structure of the ITHACA ERN – Paris APHP Centre

The APHP consortium is led by Alain Verloes (ERN ITHACA EU coordinator)

Department of Genetics, AP-HP. Nord Université de Paris – Robert Debré University Hospital

48 boulevard Sérurier – 75019 PARIS

In the ERN-ITHACA project is organized around five national Reference or Excellence Centres connected to three Universities, covering four scientific and medical axes:

  1. Developmental anomalies

RCRD for developmental anomalies and intellectual disability (AnDDI-Rares)

  • Pr Alain VERLOES, Department of Genetics, AP-HP.Nord – University of Paris – Robert Debré Hospital (RDB) – coordinator of the RCRD
  • Pr Jeanne AMIEL, Department of Clinical Genetics, AP-HP.Centre – Université de Paris ; Necker Hospital (NCK)
  • Dr Sandra WHALEN Department of Genetics, AP-HP.Sorbonne University – Trousseau & Hospitals (TRS)
  • Dr Judith MELKI Department of Genetics, AP-HP.University of Paris Saclay – Bicêtre Hospital (BCT)
  1. Intellectual disability

RCRD for rare causes of intellectual disability (DéfiScience

  • Dr Delphine HERON, department of Genetics, AP-HP.Sorbonne University – Pitié-Salpêtrière Hospital (PSL) – Coordinator of the RCRD
  • Dr Nadia BAHI BUISSON, Department of Child Neurology, AP-HP.Centre – University of Paris ; Necker Hospital (NCK)
  • Dr Marlène RIO, Department of Genetics, AP-HP.Centre – University of Paris ; Necker Hospital (NCK)
  • Pr Thierry BILLETTE de VILLEMEUR, Department of Child Neurology, AP-HP.Sorbonne University- Trousseau Hospital (TRS)
  • Dr David GERMANAUD, Department of Child Neurology, AP-HP.Nord – University – Robert Debré Hospital (RDB)
  1. Cerebellar anomalies

RCRD : cerebellar anomalies (2M2C)

  • Dr Lydie BURGLEN, Department of Child Neurology, AP-HP.Sorbonne University – Armand Trousseau Hospital (TRS), Coordinator of the RCRD
  1. Autism Spectrum Disorder (ASD)

Center of Excellence for Autism and Neurodevelopmental Disorders (InovAND)

  • Pr Richard DELORME, Department of Child and Adolescent Psychiatry, AP-HP.Nord – University – Robert Debré Hospital (RDB) , Coordinator of the CE

RCRD: rare disorders with psychiatric expression and early onset schizophrenia

  • Pr David COHEN, Department of Child and Adolescent Psychiatry, AP-HP.Sorbonne University – Pitié-Salpêtrière Hospital (PSL) – coordinator of the RCRD

General organization of the ITHACA ERN – Paris APHP Centre

In the five constitutive hospitals, Paris setting of ITHACA offers full coverage of general and specialized cares for children, adults and pregnant women:

  • 4 departments of medical genetics offering genetic consultation for children and adults, and pregnant women (RDB, NCK TRS, PSL, BCT).
  • 4 departments of child neurology and metabolic disorders (RDB, TRS, NCK, BCT)
  • 3 department of child psychiatry offering multidisciplinary diagnosis, evaluation and care (including inpatient units) for ID and ASD children (RDB, NCK, PSL).
  • Care to children: 4 hospitals (RDB, NCK, TRS, BCT) offer all facilities in general pediatrics and pediatric medical (cardiology, nephrology, endocrinology, neonatology…) and surgical specialties (visceral, cardiac, neurosurgery, orthopedics, ENT, ophthalmology…).
  • Care to adults: PSL is a large adult hospital with all medical subspecialities, and a strong involvement in adult neurology and ID in adults
  • Prenatal diagnosis (RDB, NCK, TRS, PSL, BCT) and fetal pathology (RDB, NCK)
  • Full technical support, including classic medical laboratories, medical imaging, biological investigations, electrophysiology, genetic and genomic investigations including arrays and NGS, and fetal pathology.

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

Supported by a dense network of Patient Organisations.


Hôpital de la Pitié Salpétrière

Hôpital Necker-Enfants Malades

Hôpital Armand Trousseau

Hôpital Robert Debré