IRCCS Istituto Giannina Gaslini
Via Gerolamo Gaslini, 5
16147 Genova
ITALIA
Lead
Scope
The area of expertise of our Centre, as member of the ITHACA European Reference Network (ERN), covers all syndromes exhibiting developmental anomalies 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. 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 ITHACA Centre includes:
- over 5500 dysmorphic and multiple congenital anomalie (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 dysmorphological anomalies and embryofetopathies of environmental origin
- >1500 monogenic and hundreds chromosomal forms of ID with or without associated autism spectrum disorder (ASD)
Organization of the Center
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 to 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.