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GASLINI INSTITUTE

IRCCS Istituto Giannina Gaslini - Genova

The Fondazione IRCCS, Istituto Neurologico Carlo Besta (FINCB) treats rare neuromuscular diseases affecting both children and adults. It is a regional and national referral centre for several specific neurological conditions. In fulfilment of these aims, the Foundation provides care and treatment to patients, carries out clinical and basic research to improve treatment and diagnosis (translational research), provides professional training and educational programmes (including those for pre and postgraduate university students) and develops new managerial techniques to improve health care provision and research efficiency (www.istituto-besta.it). The Foundation has in-patient clinics and outpatient clinics for adult and paediatric patients with neuromuscular disorders. Every patient has one treating physician (child and adult neurologists with expertise in these disorders) interacting and coordinating patient’s care with the multidisciplinary team. The FINCB has fully equipped paediatric and adult neurology departments, a large series of general as well as highly specific diagnostic tools, and the ability to interpret the results; it provides highly specialised interventions. Patients are seen at regular intervals, frequency depending on the underlying diagnosis and clinical needs. Most patients with rare neuromuscular disorders participates in research projects, natural history studies, observational and interventional clinical trials, genetic studies, etc. The majority is evaluated according to international validated scales and protocols. FINCB has specific diagnostic and management pathways and protocols officially approved by the Lombardy region and many of the FINCB researchers participated to the design of these protocols. We have dedicated teams for care and research on all the five subgroups of the Network and can contribute to the network in all the five areas with our clinical expertise, laboratory and clinical diagnostics and research. The FINCB is a highly specialised centre for clinical care and research aspects of genetically determined and acquired conditions of muscle, nerve and neuromuscular junction, of mitochondrial disorders and motor neuron diseases, both in adulthood and childhood. The FINCB brings expertise with regard to genetic testing; muscle, nerve and skin biopsies; detailed histological and biochemical analysis of mitochondrial diseases and muscle disorders; uses MRI applied to nerve and muscle disorders and perform autonomic nervous system tests. The FINCB is strongly committed in keeping patients and families fully informed of new advances in neuromuscular diseases and has close relationships with several Patients’ Advocacy Groups. FINCB belongs to several networks at the national and international level in the field of neuromuscular disorders and already has long lasting collaboration with many participants of the ERN-NMD network.

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