Rome, 13/04/2012 – He estimates thousands of cases annually just in Italy,although a comprehensive registry of rare genetic diseases of the retina is still lacking.
Helping to build is one of the objectives of MAGI – the nonprofit Institute of Geneticsspecializes in the diagnosis of rare diseases and led by geneticist MatthewBertelli. Against these diseases in our country proves that you can ‘networking’around the patient, thanks to an alliance of nonprofit scientific research and the best hospitals. It is the ‘Network for Rare Diseases of Retina’, promoted by MAGI, which involves the Policlinico A. Gemini and hospitals in Milan
Luigi Sacco and St. Paul – and that was presented today at a press conference in Rome.
This is a network of clinical excellence that allows pediatric patients and adults to go in record time compared to a few years ago, the suspected diagnosis and appropriate to the definitive molecular diagnosis. Thus and only thus, will benefit from taking charge ranging from medical genetic counseling to family rehabilitationway back into the more advanced clinical trials.
Rare diseases of the retina are a major cause of blindness in our country and represent a very large group of diseases with symptoms and course also very different. The arrival of recent tests that have a definite diagnosis and the uniform classification of patients who only now is implementing this network should result in a short time to overcome this difficulty. The Network was founded 3 years ago by the need to have concrete of clinical diagnosis confirmed by genetic testing ofhigh-level, is expanding.
For info www.assomagi.org
Roma, 13/04/2012 – Se ne stimano migliaia di casi all’anno solo in Italia, anche se un registro esaustivo delle malattie genetiche rare della retina manca tuttora.
Contribuire a costruirlo è uno degli obiettivi di MAGI – l’Istituto non profit di genetica specializzato nella diagnosi di malattie rare e guidato dal genetista Matteo Bertelli. Contro queste malattie il nostro Paese dimostra di saper ‘fare rete’ intorno al paziente, grazie ad una alleanza tra la ricerca scientifica non profit e le migliori strutture ospedaliere. E’ la ‘Rete per le Malattie Rare della Retina’, promossa da MAGI, alla quale partecipano il Policlinico A. Gemelli e a Milano gli Ospedali
Luigi Sacco e San Paolo – e che è stata presentata oggi a Roma in conferenza stampa.
Si tratta di un Network di eccellenze cliniche che consente a pazienti pediatrici e adulti di passare, in tempi eccezionalmente brevi rispetto a pochi anni fa, dal sospetto diagnostico alla definitiva e appropriata diagnosi molecolare. In questo modo e solo così, potranno beneficiare di una presa in carico medica che va dalla consulenza genetica familiare alla riabilitazione fino all’inserimento nei più avanzati trial clinici.
Le malattie rare della retina sono una delle principali cause di cecità nel nostro Paese e rappresentano un gruppo molto ampio di patologie con sintomatologia e decorso anche assai differente. L’arrivo recente dei test che consentono di avere una diagnosi certa e la classificazione uniforme dei pazienti che solo ora questa Rete sta attuando dovrebbe portare nel giro di poco tempo a superare questa difficoltà. La Rete, nata 3 anni fa dall’esigenza concreta dei clinici di avere diagnosi confermate attraverso test genetici di alto livello, si sta espandendo.
Per info www.assomagi.org
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