ERN-ITHACA – Marseilles Centre


The Marseilles Centre of the ITHACA European Reference Network (ERN) has a long history of interest and expertise in the field of rare diseases. The centre was identified as a national Reference Centre for Rare Disease in 2005 related to the First National plan for Rare disorders. The area of expertise of this RCRD covers all developmental anomalies and intellectual disability (ID). About 1/40 newborn has a congenital malformation and 1/40 has ID. Therefore, 3-5% of all human births show or will develop a developmental anomaly.

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 this ERN partner includes thus

– over 5500 dysmorphic and malformative syndromes (as listed in the London Dysmorphology Database), among which 3000 monogenic diseases, all chromosome abnormalities (most of them only detectable through array technologies), multifactorial sporadic dysmorphologic anomalies and embryofetopathies of environmental origin

– more than 1500 forms of monogenic intellectual disability and over 150 non-syndromal forms of autism.

– the Marseilles centre developed an expertise in progeria and conducted in therapeutic trials

Services to patients

The regional population covered by the Marseilles Centre counts 5 million inhabitants. About 7% of the patients seen in the Centre are referred from other French regions, especially Corsica, 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 – Marseille Centre

The Assistance Publique-Hôpitaux de Marseille (APHM), the Health Care Provider (HCP) for the Marseille Centre, is the largest hospital in South-East France. The Marseilles Centre offers full coverage of general and specialized cares for children, adults and pregnant women:

– The centre is located in the children’s hospital of la Timone University Hospital in Marseille in the department of Medical Genetics. There are two clinical units, with a total of 7000 clinical genetic procedures per year. The first offers consultations for children and adults in the different areas of clinical genetics and genetic counseling. The other unit, devoted to pregnant women is integrated to a unit of prenatal diagnosis offering all facilities (US survey, fetal sampling). Clinical geneticists of the centre are involved in both units, ensuring a continuity of care for cases diagnosed in utero.

– Genetic and genomic investigations including array and NGS are performed in the same department, close to the clinical units so that patients beneficiate in the same place of expert clinical assessment as well as sophisticated laboratory examinations.

– All pediatric medical specialties and most of adult medical specialties are available on the hospital site, facilitating multidiciplinary advices and care.

– APHM provides full technical support including classic medical laboratories, medical imaging biological investigations, electrophysiology and fetal pathology

– There are constant exchanges with the research team (research unit UMR_S910)

Further information

Lead:  Prof. Nicole Philip-Sarles

Département de Génétique Médicale,
Hôpital de la Timone Enfant,
13385 Marseille Cedex 5

Tel:        04 91 38 67 34/ 66 30