IRCCS Istituto Giannina Gaslini
Via Gerolamo Gaslini, 5
16147 Genova
ITALIA
Plomo
Ámbito de aplicación
El ámbito de especialización de nuestro centro, como miembro de la Red Europea de Referencia (ERN) ITHACA, abarca todos los síndromes que presentan anomalías del desarrollo y/o discapacidad intelectual (DI). Aproximadamente 1 de cada 40 recién nacidos presenta una malformación congénita (261 de cada 10 000 fetos y recién nacidos, según los informes de EuroCAt), y 1 de cada 40 presenta DI. Por lo tanto, entre 3 y 5 % de todos los nacimientos humanos presentan o desarrollarán una anomalía del desarrollo, de las cuales al menos entre 25 y 50 % son de origen genético o genómico. Esta enorme población representa, en realidad, la yuxtaposición de un número muy elevado de trastornos raros a nivel individual que presentan una diversidad extrema de causas y fenotipos. La competencia y el ámbito de especialización de este centro ITHACA incluyen:
- más de 5.500 síndromes dismórficos y de anomalías congénitas múltiples (MCA) (recogidos en la Base de Datos de Dismorfología de Londres), entre los que se incluyen más de 3.000 enfermedades monogénicas, todas las anomalías cromosómicas (la mayoría de ellas solo detectables mediante tecnologías de microarrays), anomalías dismórficas multifactoriales y esporádicas, y embriopatías de origen ambiental
- >1.500 formas monogénicas y cientos de formas cromosómicas de discapacidad intelectual, con o sin trastorno del espectro autista (TEA) asociado
Organización 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.
Atención a los pacientes
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.