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AISMME NEWS del 26/11/2008: OrphaNews Europe

News da: OrphaNews Europe 26/11/2008

OrphaNews Europe


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OrphaNews Europe : 26 November 2008
  Champagne, anyone? EC adoption of the Communication moves one step closer to bringing rare diseases out of the shadows

  EU Policy News
  Second E-Rare call for proposals to launch in early December
  As France’s turn at the helm of the EU draws to a close, a last conference moves the rare disease Communication forward
  Hark! Who goes there? European Commission responds to the call for improved telemedicine
  European research group calls for rethinking of JTI innovative medicine funding model
  The FDA and EMEA agree on success of transatlantic cooperation over past five years
  Treat-NMD and EMEA hold successful joint workshop on clinical outcome measures for spinal muscular atrophy

  National & International Policy Developments
  Latin American rare disease umbrella group extends actions into Panama, Colombia, Dominican Republic and Haiti
  Other European news
  Italian rare disease conference emphasises importance of international collaboration

  Ethical, Legal & Social Issues
  Does one size really fit all? Study finds that consent procedures might be better tailored to suit the type of study conducted

  Orphanet News
  New Texts
  New Orphanet Journal of Rare Diseases Publications

  New Syndromes
  The H syndrome: a new disorder caused by mutations in the nucleoside transporter hENT3

  New Genes
  Heart-hand syndrome of Slovenian type: a new kind of laminopathy
  Kallmann syndrome: mutations in CHD7, causing CHARGE syndrome, also cause idiopathic hypogonadotropic hypogonadism
  Myoglobinuria: mutations in LPIN1 cause recurrent acute form in childhood

  Research in Action
  Fundamental Research
  Amyotrophic lateral sclerosis: induced pluripotent stem cells generated from patients can be differentiated into motor neurons
  Clinical Research
  Lysosomal storage diseases: The Lancet presents three review articles targeting Gaucher, Pompe and Fabry diseases
  Large B-cell lymphoma: structural profiles of TP53 gene mutations predict clinical outcome
  News from the Patients' Associations
  Brugada syndrome: fragmented QRS as a marker of conduction abnormality and a predictor of prognosis
  Therapeutic Approaches
  Huntington disease: striatal progenitors derived from human ES cells mature into DARPP32 neurons in vitro and in vivo

  Patient Management and Therapy
  Polycythemia vera and essential thrombocythemia: the effect of hydroxyurea on the JAK2V617F allelic ratio
  Acromegaly: quality of life in patients undergoing long-term somatostatin analog treatment with and without pegvisomant

  Orphan Drugs
  50 good reasons to be happy…the EMEA approves the 50th orphan drug
  Two orphan products net prestigious Prix Galien
  Ten EMEA orphan drug designations for November

  New project promoting patient group participation in clinical trials seeks information from associations

  What's on Where?
  Conference on the Impact on Clinical Research of European Legislation
  IBC Conference: Ushering in the New Era of Orphan Disease R&D, Clinical & Business Strategies
  EuroGentest Workshop: Validation of Diagnostic Tests in Clinical Molecular Genetics
  British Paediatric Surveillance Unit 2009 Conference
  3rd International Congress on Rare Pulmonary Diseases and Orphan Drugs
  Molecular Mechanisms of Neurodegeneration
  7th World Congress on Melanoma
  8th Balkan Meeting on Human Genetics
  12th International Congress on Neuronal Ceroid Lipofuscinoses

  Press & Publications
  New OECD publication compares global pharmaceutical pricing policies