Lead: Pr David GENEVIEVE
CENTRE HOSPITALIER UNIVERSITAIRE DE MONTPELLIER
191 av. du Doyen Giraud
34295 Montpellier cedex 5
Phone: 0033 4 67 33 67 33
The area of expertise of the Montpellier Centre of the ITHACA European Reference Network (ERN) covers all syndromes exhibiting developmental abnormalities 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. The jurisdiction and scope of expertise of Bordeaux ITHACA Centre includes:
- over 5500 dysmorphic and multiple congenital anomalies (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 dysmorphic anomalies and embryo-fetopathies 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 Montpellier Centre includes more than 5.893 millions inhabitants (Occitania). The HCP is one of the 2 hospitals of Occitania region with a genetics department and is the only HCPfor ERN ITHACA of this region .
The Montpellier Reference Center (CLAD-SOOR) is located at the University Hospital of Montpellier and was certified in 2004 in France. CLAD-SOOR provide care for patients of any age, from the fetal period to adulthood, and for pregnant women. CLAD-SOOR combines all genetics consultations including preimplatatory diagnosis of the Southh of the France, whose activity is very largely focused on developmental anomalies and on malformation syndromes. CLAD-SOOR must assume the missions of expertise and coordination of medical, paramedical, psychological and social care. The department of Genetics contibute to the care by offering genetic diagnosis, genetic testing, familial screening, genetic counseling, neuropsychological evaluation, prenatal diagnosis, preimplatatory diagnosis follow up and care of patients with MCA and ID, and therapeutic assays in the field of developmental anomalies. The clinical Department includes 7 MD geneticists, 1 genetic counselors, 2 nurses, 2 psychologists. The HCP is closely in contact with a network for rare disease of the Occitanie region https://www.reseau-maladies-rares.fr/. This networks allows the patients to an easily acces of specific care and professional specialized in rare disease outside the HCP, i.e. in all the Occitanie Region. Patients are seen in outpatient clinics or in day hospitalisation ward. The department counts three labs: molecular biology (including NGS facility), cytogenetics (including array technology) and fetal pathology. The department works with the child neurology dept. that contribute to the care of metabolic disorders and child epilepsy. Given the large geographical area that must cover CLAD-SOOR, we plan to propose teleonsultation.
CHU of Montpellier is one of the largest hospital in France (over 309 pediatric beds and a maternity with 3900 birth). It offers full coverage of general and specialized cares for children and pregnant women, in particular: a department of medical genetics offering genetic consultation for children and adults, and pregnant women; a department of child neurology and metabolic disorders; a department of child psychiatry offering multidisciplinary diagnostic and care for ID children; departments of general pediatrics, pediatric cardiology,nephrology, surgery, orthopedics, ENT, ophthalmology…; prenatal diagnostic facilities; full technical support, including classic medical laboratoires, medical imaging, biological investigations, electrophysiology, genetic investigation (arrays, NGS), fetal pathology. The Genetic Unit, core of this application, organizes genetic diagnosis, genetic testing, familial screening, genetic counseling, prenatal diagnosis, preimplatatory diagnosis, follow up and care of patients with MCA and ID, and therapeutic assays in the field of developmental anomalies (fragile X, trisomy 21, contact with Takeda company regarding Kabuki syndrome..).
The coordonator of the reference center is the Director of the network for rare disease in the Occitanie region https://www.reseau-maladies-rares.fr/
The HCP is dedicated to rares disorders, especially birth defects with craniofacial involvment such as treacher coillins syndrome and also regarding disorders due to pathogenic variant in genes involved in chromatine regulation (Kabuki syndrome, CDK13, YY1, etc..).