ERN-ITHACA – Siena
The area of expertise of the Siena Centre of the ITHACA European Reference Network (ERN) covers all syndromes exhibiting developmental anomalies and/or intellectual disability (ID). Since its establishment, the Siena Center has been strongly active ìn the diagnosis of diseases with intellectual disability and prone to the development of national and international networks, as represented by “The X-linked Mental Retardation Italian Network”. This net has been active since 2003, collecting detailed clinical information and biological samples from a large number of ID patients inserted in a web-based database presently available at the address http://www.biobank.unisi.it/. The bank is partially supported by the Telethon Italian Foundation, founding partner of the “Telethon Network of Genetic Biobanks (TNGB)” and partner of the “BBMRI – Biobanking and BioMolecular resources Research Infrastructure of Italy.
The expertise of Siena ITHACA Centre includes:
- Multiple congenital anomalies (MCA);
- Dysmorphic syndromes with or without intellectual disability;
- Autistic spectrum disorders.
Monogenic, polygenic or detectable through array technologies diseases.
Services to patients
The Service operates to provide clinical and genetic diagnosis to subjects with genetic diseases and to define the reproductive risk of couples from families with genetically determined conditions. The Centre contributes to the care to patients by offering genetic counseling and genetic diagnosis, newborn and pediatric evaluation, neuropsychological and neuropsychiatric evaluation, prenatal diagnosis, follow-up and therapeutic care. Within the genetic counseling different assessments can be provided, including pre- and post-testing, monitoring and follow-up visits and certification release for the National Health System. Recently, the possibility to perform Artificial Reproductive Technologies with Preimplantation Genetic Diagnosis is also considered. Multidisciplinary visits and multiprofessional case discussions are regularly planned in order to provide the patient with the optimal management for his condition. The Service works in close connection with patients associations encouraging meetings with patients and experts, promoting initiatives aimed to improve health conditions and quality of life of affected members, families and caregivers and enhancing preventive, therapeutic and rehabilitative activity. The Center is in tight contact with parents association as AIRETT Onlus, the Association for early onset seizure variants of Rett syndrome due to CDKL5, parents association for congenital Rett syndrome due to FOXG1, European Federation of Rett associations (RSE) and others.
Organization of the ITHACA ERN – Siena
The Azienda Ospedaliera Universitaria Senese (AOUS), the Heath Care provider (HCP) for the Siena Centre, is structured in 8 departments directed by General Manager, Chief Financial Officer, Chief Medical Officer, and Chief Nursing Officer. Each department is subcontracted in several units:
- the Medical Genetics Unit and the Radiology Unit are part of Diagnostic service and Emergency department;
- the Child Neuropsychiatry Unit is part of mental health inter-department;
- the Pediatric Unit is part of the Maternal and Child Department;
- the Neurology and Neurometabolic diseases Unit is part of the Department of Neurological and Sensorineural Sciences.
It has 639 ordinary beds, 68 day hospital and 37 of observation.
Medical Genetics Unit (Pr Alessandra Renieri) offers genetic consultation for children and adults, and pregnant women and assess molecular genetic tests;
Child Neuropsychiatry Unit has over 30 years of experience in clinical diagnosis, care and management of Rett syndrome and in ASD;
Pediatric Unit has a long-lasting experience in diagnosis, treatment and periodic evaluations of patients with rare condition with epilepsy;
Neurology and Neurometabolic diseases Unit ménage adult patients with rare intellectual disability syndromes and rare malformation syndromes;
Radiology Unit provides a high standard imaging service of technical excellence, such as MRI, for the diagnosis optimization of pediatric and adult patients.
Several healthcare professionals as Neurophysiopatologist, Cardiologists, Odontologists, Gastroenterologists, Physical Therapists and others are integrated into the care pathway in order to obtain a complete examination, to ameliorate health conditions and to obtain a defined diagnosis.
Lead: Prof Alessandra RENIERI
U.O.C. di Genetica Medica
Università di Siena – Dipartimento di Biotecnologie Mediche
Azienda Ospedaliera Universitaria Senese – Ospedale Santa Maria alle Scotte
Viale Mario Bracci
Tel: 39 0577 233303