ERN-ITHACA – Centro di Rennes

Service de génétique clinique
Pôle de pédiatrie médico-chirurgicale et génétique clinique
CHU de Rennes – Hôpital Sud
16 Boulevard de Bulgarie
35203 RENNES CEDEX 2
FRANCE

Piombo

Ambito di applicazione

L’area di competenza del nostro Centro, in qualità di membro della Rete di Riferimento Europea (ERN) ITHACA, copre tutte le sindromi caratterizzate da anomalie dello sviluppo e/o disabilità intellettiva (DI). Circa 1 neonato su 40 presenta una malformazione congenita (261 su 10.000 feti e neonati secondo i dati EuroCAt) e 1 su 40 presenta una disabilità intellettiva. Pertanto, da 3 a 5 % di tutte le nascite umane presentano o svilupperanno un’anomalia dello sviluppo, tra cui almeno 25-50% sono di origine genetica o genomica. Questa vasta popolazione rappresenta in realtà la giustapposizione di un numero molto elevato di disturbi, singolarmente rari, che presentano un’estrema diversità di cause e fenotipi. La competenza e l’ambito di specializzazione di questo Centro ITHACA comprendono:

• 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
• >1.500 forme monogeniche e centinaia di forme cromosomiche di ritardo mentale, con o senza disturbo dello spettro autistico (ASD) associato

Assistenza ai pazienti

The Clinical Genetics Department of the University Hospital of Rennes covers a large part of the Brittany region and neighboring departments, which corresponds to a population of approximately 3 million inhabitants. The Rennes Reference Center for Developmental and Intellectual Diseases (CLAD-Ouest) is located at the University Hospital of Rennes, attached to the clinical genetics department, and was accredited in France in 2010. The Center provides expertise in diagnosis, care, teaching and research and participates in epidemiological surveillance in the field of developmental abnormalities from childhood to adulthood and for the fetal period. Patients can benefit from the latest diagnostic technologies of whole exome and whole genome sequencing. The Department of Clinical Genetics includes 1 MD-PhD geneticist, 6 MD geneticists, 1 MD neurologist, 1 MD pediatrician, 1 MD metabolic neuropediatrician, 2 genetic counselors, 2 nurses, 1 psychologist, 2 neuropsychologists, 1 dietician and 1 social worker. Patients are seen in the medical consultation unit or in the day hospital ward. The interactions with the Reference Center for Intellectual Disabilities of Rare Causes, which is also supported by the Department of Clinical Genetics, with the Department of Child Neurology and with the Multidisciplinary Center for Prenatal Diagnosis are strong.

Organizzazione del centro

The Rennes Reference Center for Developmental and Intellectual Diseases (CLAD-Ouest), initially labeled in 2010 and re-labeled in 2017 is coordinated by Professor Sylvie ODENT (Department of Clinical Genetics, University Hospital of Rennes, France) and brings together a multidisciplinary and highly specialized medical team, organized as a multi-site Center in the greater Western region. The CLAD-Ouest is spread over the University Hospital Center of Rennes (coordinating site), the reference Centers of the University Hospital Center of Angers, Nantes and Tours and the competence Center of the University Hospital Center of Brest, the Hospital Center of Vannes and the Hospital Center of Le Mans.

The experts from these 7 Centers have been working together for several years, in particular within the Western genetics group (GEM-EXCELL network) and now the University Hospital Federation GenOMedS, recently accredited and also coordinated by Prof. Sylvie ODENT. GenOMedS devoted to the development of care, research and teaching/training in the field of genetics diseases with input from the human and social sciences. This innovative project is based on an integrated interregional network in multi-omics medicine (genomics, transcriptomics, metabolomics, proteomics) and introduces the notion of “personomics”, which consists of making the person an actor in his or her care pathway.

The CLAD-Ouest is part of the national network. It is one of the 6 coordinating rare disease reference centers that are part of the AnDDI-Rares network (a national rare diseases network dedicated to diseases with somatic and cognitive developmental anomalies).

Reference center for Chiari and vertebral and spinal malformations – spinal dysraphism (C-MAVEM)

A second National Reference Centre operates within the HCP structure and is involved with the management of spinal dysraphism. The center has been coordinated until now by Dr. Andrea Manunta and will be coordinated from this year 2022 by Dr. Benoit Peyronnet, urologist. There are different forms of spinal dysraphism, in most of them the handicap is not limited to the nervous system and has a major impact on the musculo-skeletal, urinary and gastrointestinal systems.  The handicap related to spinal dysraphism is therefore variable in each individual patient. The National Reference Centre for spina bifida offers a multidisciplinary approach and expertise in the management of both adult and pediatric patients. 25 professionals (medics and paramedics) ensure a comprehensive management of all the differents aspects of this complex condition. Genetic counseling is provided in this center by the genetic counselor of CLAD-Ouest.