{"id":428,"date":"2022-02-08T20:43:47","date_gmt":"2022-02-08T19:43:47","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?post_type=expert-centers&p=428"},"modified":"2022-04-01T12:29:36","modified_gmt":"2022-04-01T10:29:36","slug":"ern-ithaca-reggio-emilia-center","status":"publish","type":"expert-centers","link":"https:\/\/ern-ithaca.eu\/it\/about-us\/expert-centers\/ern-ithaca-reggio-emilia-center\/","title":{"rendered":"ERN-ITHACA \u2013 Reggio Emilia Center"},"content":{"rendered":"
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Struttura Complessa di Genetica Medica<\/strong>
Dipartimento Materno-Infantile
Azienda USL \u2013 IRCCS di Reggio Emilia
Viale Risorgimento, 80
42123 Reggio Emilia Italy<\/p>\n\n\n\n

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Sito web<\/a><\/div>\n<\/div>\n\n\n\n
<\/div>\n\n\n\n

Piombo<\/h2>\n\n\n\n
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Dr. Livia Garavelli<\/strong><\/p>\n\n\n\n

Telefono<\/strong>: +39 0522 296244 \/ 295463<\/p>\n\n\n\n

Fax<\/strong>: +39 0522 296266<\/p>\n\n\n\n

Posta<\/strong>:\u00a0livia.garavelli@ausl.re.it<\/a> <\/p>\n<\/div>\n<\/div>\n\n\n\n

<\/div>\n\n\n\n

Ambito di applicazione<\/h2>\n\n\n\n

L\u2019area di competenza del nostro Centro, in qualit\u00e0 di membro della Rete di Riferimento Europea (ERN) ITHACA, copre tutte le sindromi caratterizzate da anomalie dello sviluppo e\/o disabilit\u00e0 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 disabilit\u00e0 intellettiva. Pertanto, da 3 a 5 % di tutte le nascite umane presentano o svilupperanno un\u2019anomalia dello sviluppo, tra cui almeno 25-50% sono di origine genetica o genomica. Questa vasta popolazione rappresenta in realt\u00e0 la giustapposizione di un numero molto elevato di disturbi, singolarmente rari, che presentano un\u2019estrema diversit\u00e0 di cause e fenotipi. La competenza e l\u2019ambito di specializzazione di questo Centro ITHACA comprendono:<\/p>\n\n\n\n

* over 5500 dysmorphic and multiple congenital anomalies (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 embryo-fetopathies of environmental origin <\/p>\n\n\n\n

* >1500 monogenic and hundreds chromosomal forms of ID with or without associated autism spectrum disorder (ASD) <\/p>\n\n\n\n

<\/div>\n\n\n\n

Assistenza ai pazienti<\/h2>\n\n\n\n

The Medical Genetics Unit delivers consultations for children and adults including diagnostic evaluations, genetic tests, genetic counselling and prenatal testing. The Unit is divided into 2 sections, a clinical one and a laboratory one.<\/p>\n\n\n\n

The clinical section is made up of six clinical geneticists, each with specific expertise, one biotechnologist, one genetic nurse and, together with the whole Mother and Child Department, has a day-service for pediatric genetic rare disease follow-up.<\/p>\n\n\n\n

We further offer multidisciplinary consultations with neonatologists and a wide range of pediatric specialists, neurologists and neurophysiologist, endocrinologists, nephrologists, rheumatologists, gastroenterologists and rehabilitation specialists. We collaborate closely with a range of therapists to address the multidisciplinary medical needs of patients, including physiotherapists, social workers, nutritionists, and speech therapists. Moreover, in the Department there is a Psychological Service Unit.<\/p>\n\n\n\n

The clinical department interacts closely with the molecular diagnostics laboratory which provides state-of-the-art cytogenetic and molecular testing. The laboratory section is made up of 6 biologists, 6 technicians and one secretary.<\/p>\n\n\n\n

Monthly, we assess quality improvement and have multi-disciplinary case-based discussions.<\/p>\n\n\n\n

Our department has a wide research interest in clinical entities mainly involving MCA\/ intellectual disability syndromes.<\/p>\n\n\n\n

We work very closely with the Pediatric Neurology Department, the chief being Dr Carlo Fusco, the Substitute Representative, in the field of brain malformations, neurophysiology, epilepsy, neuromuscular and metabolic diseases.<\/p>\n\n\n\n

Patients with neural tube defects are followed in the \u2018Spina Bifida Reference Center\u2019 in the 3rd Level Department of Pediatric Rehabilitation, the chief being Dr Silvia Sassi.<\/p>\n\n\n\n

The aim is multidisciplinary care of patients with rare diseases and the purpose is to widen knowledge of disease manifestations, treatment and care, with three main objectives: medical services, research and education. We collaborate closely with patient organizations and other genetic centers with the main aim being to enhance the quality of life of the young patients.<\/p>\n\n\n\n

<\/div>\n\n\n\n

Organization of the center<\/h2>\n\n\n\n

The Local Health Authority (AUSL) of Reggio Emilia is the institution that administers the National Health Service in the province.<\/p>\n\n\n\n

The mission is to respond to the citizens\u2019 health needs, ensuring effective, timely interventions for health promotion, prevention and care, accessible without barriers of culture, language and socio-economic conditions, in a safe condition using the available resources efficiently.<\/p>\n\n\n\n

It researches and encourages forms of integration, participation and collaboration and promotes new ways of providing services consistent with the evolution of the demand and need, with the new culture of health and with continuous innovation and rapid scientific knowledge and in the medical technologies.<\/p>\n\n\n\n

The AUSL includes a research hospital, IRCCS, recognised by the Italian Minister of Health in \u201cAdvanced Technologies and Healthcare Protocols in Oncology\u201c.<\/p>\n\n\n\n

Furthermore, AUSL-IRCCS developed a Research Program in the Inflammation and Autoimmunity Field.<\/p>\n\n\n\n

IRCCS promotes research projects in the field of primary, secondary prevention and personalised medicine, with attention to the organization and evaluation of diagnostic and therapeutic pathways.<\/p>\n\n\n\n

The IRCCS Scientific Directorate provides support to the Scientists with the Unit of \u201cInfrastructure Research and Statistics\u201d composed by: Ethical Committee Secretariat; Clinical Trial Phase I Coordination Office; Methodological and Statistics Unit; Medical Library and Grant Office.<\/p>\n\n\n\n

It develops training and research programmes, promotes innovation and designs paths for its quality system to ensure the increasingly qualified public receives services, to improve the skills and commitment of its practitioners and to promote the health of the local public in an equitable way.<\/p>\n\n\n\n

The Santa Maria Nuova Hospital is one of the largest and most specialized hospitals in the Emilia-Romagna region and has 2,900 employees offering top referent care for 10,500 patients on an outpatient basis daily. The hospital has extensive state-of-the-art facilities and 1,512 beds for single-day and multi-day inpatient stays.<\/p>","protected":false},"featured_media":0,"template":"","tags":[],"country":[59],"center-status":[15],"class_list":["post-428","expert-centers","type-expert-centers","status-publish","hentry","country-italy","center-status-full-member"],"acf":{"name-city":"Reggio Emilia Center","representative":"Dr Livia Garavelli","latitude":"44.698993","longitude":"10.629686","keywords-search":""},"yoast_head":"\nERN-ITHACA \u2013 Reggio Emilia Center - ERN ITHACA<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/ern-ithaca.eu\/it\/about-us\/expert-centers\/ern-ithaca-reggio-emilia-center\/\" \/>\n<meta property=\"og:locale\" content=\"it_IT\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"ERN-ITHACA \u2013 Reggio Emilia Center - 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