Laminopathies: many diseases, one gene. Report of the first Italian Meeting Course on Laminopathies
نویسندگان
چکیده
The first Italian Meeting Course on Laminopathies entitled “Laminopathies: many diseases, one gene” was held in Bologna on April 8-9, 2011 and it was attended by 100 participants, including neurologists, dermatologists, cardiologists, biologists, geneticists, and physiotherapists besides patients and families Associations. This meeting was organized by the Institute of Molecular Genetics of the National Research Council, the Italian Network for Laminopathies and the AIProSaB, the Italian association for the study of Hutchinson-Gilford progeria. The main aim of the meeting was to join scientists involved in clinical practise and research on lamin A/C linked diseases (1) and to offer an overview on current clinical protocols and medical research to clinicians, researchers and patients. The meeting focused on the following main areas: 1) the biology of the nucleus and the nuclear envelope and the biological pathways affected in laminopathies; 2) the epidemiology of muscle laminopathies, lipodystrophies and progeroid syndromes; 3) the EmeryDreifuss Muscular dystrophy (EDMD) from a clinical point of view; 4) Dilated cardiomyopathy with conduction defects (CMD-CD) from diagnosis to therapy; 5) Familial partial lipodystrophy of the Dunningan type (FPLD): diagnosis and therapy; 6) Progeroid laminopathies, including mandibuloacral displasia (MADA) and Hutchinson-Gilford progeria (HGPS): diagnosis and therapeutic trials.
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عنوان ژورنال:
دوره 30 شماره
صفحات -
تاریخ انتشار 2011