ERN-ITHACA – Paris Centre


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).

Services to patients

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), the Heath Care provider (HCP) for the Paris Centre, is the largest hospital in France. APHP is subdivided in 12 branches, four of which contribute to the Centre: Robert Debré (RDB), Necker-Enfants Malades (NCK), Trousseau (TRS) and Pitié-Salpétrière (PSL) University Hospitals. Altogether, these 4 branches count over 1100 pediatric beds, over 2100 beds for adults (most 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). Members of the ITHACA ERN–Paris coordinate four national french RCRD: developmental anomalies (coordinator Pr Alain VERLOES, RDB), cerebellar anomalies (coordinator: Dr Lydie BURGLEN, TRS), rare causes of intellectual disability (Dr Delphine HERON, PSL), and rare disorders with psychiatric expression, including rare forms of ASD (Pr David COHEN, PSL). The Paris Centre 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).
  • 3 departments of child neurology and metabolic disorders (RDB, TRS, NCK)
  • 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: 3 hospitals (RDB, NCK, TRS) 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) and fetal pathology (RDB, NCK, TRS)
  • 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 4 hospitals

Further information

Lead:  Prof. Alain Verloes

Département de Génétique – Hôpital Universitaire Robert DEBRE

48 bd Sérurier – Fr 75019 Paris, France

Tel:        (+331 / 01) 40 03 53 06 / 36 18