IRCCS Istituto Giannina Gaslini
Via Gerolamo Gaslini, 5
16147 Genova
ITALIA
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
Organizzazione del Centro
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.
Assistenza ai pazienti
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.