IRCCS Istituto Giannina Gaslini
Via Gerolamo Gaslini, 5
16147 Genova
ITALIE
Plomb
Champ d'application
En tant que membre du Réseau européen de référence (ERN) ITHACA, notre centre est spécialisé dans tous les syndromes se caractérisant par des anomalies du développement et/ou une déficience intellectuelle (DI). Environ 1 nouveau-né sur 40 présente une malformation congénitale (261 pour 10 000 fœtus et nouveau-nés selon les rapports EuroCAt), et 1 sur 40 est atteint de déficience intellectuelle. Par conséquent, 3 à 5 % de toutes les naissances humaines présentent ou développeront une anomalie du développement, parmi lesquelles au moins 25 à 50 % sont d’origine génétique ou génomique. Cette population considérable représente en réalité la juxtaposition d’un très grand nombre de troubles individuellement rares présentant une extrême diversité de causes et de phénotypes. Le champ d’action et le périmètre d’expertise de ce centre ITHACA comprennent :
- plus de 5 500 syndromes dysmorphiques et anomalies congénitales multiples (MCA) (répertoriés dans la base de données de dysmorphologie de Londres), parmi lesquels plus de 3 000 maladies monogéniques, toutes les anomalies chromosomiques (dont la plupart ne sont détectables que grâce aux technologies de puces à ADN), des anomalies dysmorphologiques multifactorielles et sporadiques, ainsi que des embryofétopathies d’origine environnementale
- >1 500 formes monogéniques et plusieurs centaines de formes chromosomiques de déficience intellectuelle, associées ou non à un trouble du spectre autistique (TSA)
Organisation du Centre
National Pubblic Children’s Hospital and Reseach Institute Giannina Gaslini Children’s Hospital (IGG) meets the international excellence standards for safe health care deliver. The Institute has 20 interconnected buildings distributed over a 73,000 square meter area. The hospital staff members are over 1,800, including 270 physicians and 850 nurses. Beds available for ward hospitalization, for day hospital admissions and for day surgery are over 300. On average, hospitalizations are over 30,000/year and outpatient admissions over 540,000/year. Emergency Dept. admissions are over 33,000/year. More than 42% of patients come from all regions of Italy and 4,4% of patients come from abroad. Through more than 250 collaboration agreements with institutions and health care facilities all over the world, the Institute promotes continuing education and training of staff of local children’s hospitals and is actively involved in many humanitarian projects. IGG is an academic medical Institute specialized in paediatrics, that develops biomedical Research and is recognized by the Italian Ministry of Health as Scientific Institute of excellence. Since its foundation in 1938, the hospital has been dedicated to children’s healthcare and to finding new and better ways to treat childhood illnesses.
Service aux patients
IGG, at the Medical Genetics Department in Genoa Italy have a group of specialists that collaborate within the different clinical Departments of the Institute and collaborate with different international groups.
The Department of Medical Genetics offers consultations for children and adults including diagnostic consultations, carrier screening, genetic counselling and prenatal testing. Currently, there are three clinical geneticists and three residents in genetics working at the department.
Multidisciplinary medical needs of patients are addressed to all the other specialists like neurologist, endocrinologist, neurosurgeon etc. If needed the patients are also referred to physiotherapists, social workers, nutritionists, and rehabilitation counsellors. Follow-up of the patients with congenital malformations and ID is performed in collaboration with the different specialists.
When needed, we refer patients to psychological or psychiatric consultations and often genetic consultation is performed together with a psychologist. Psycho‐social support is present in the hospital with special expertise on rare disorders with ID. To cover the social need brought on by a rare disease, patients are provided with written information and contact detail of available patient organizations. Certification for Rare Diseases are offered for Public Health Care.