Aismme Onlus

AISMME NEWS del 24/12/2008: OrphaNews Europe

News da: OrphaNews Europe 24/12/2008

OrphaNews Europe

OrphaNews Europe : 24 December 2008
  The true measure of a civilisation can be taken by the way that it cares for its most vulnerable members…

  Spotlight on...
  The road less travelled…a geneticist urges developing countries to take their own path and prioritise rare monogenic disorders

  EU Policy News
  The report of the final French EU presidency rare disease conference is now available
  No patents for embryonic stem cells in Europe
  Orphanet News
  Dutch dentists get the drill on Orphanet
  New Texts
  Policy recommendations specifically for rare cancers

  National & International Policy Developments
  Declaration of Helsinki revisions protect clinical trial participants around the world
  Tyrosinemia type 1 returns to Dutch newborn screening programme
  Other European news
  Comprehensive perinatal study delivers trove of information
  Other International News
  First systematic newborn screening tool for fragile X to be put to the test in the USA
  Major paediatric study in the USA enters next phase

  Ethical, Legal & Social Issues
  Recent policy changes that expand newborn screening to diseases with no available treatment are questioned by bioethics council

  Prevalence of rare diseases: Bibliographic data - 10th Edition
  New Orphanet Journal of Rare Diseases Publications

  New Syndromes
  Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis
  Scoliosis, blindness and arachnodactyly in a large Turkish family
  A new dominantly-inherited pure cerebellar ataxia: SCA 30
  A novel Refsum-like disorder that maps to chromosome 20
  Reciprocal 1q21.1 deletions and duplications linked to micro- or macro-cephaly and developmental and behavioural delays
  MEDNIK: a new syndrome with mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratodermia

  New Genes
  Leukodystrophy with spastic paraparesis and dystonia: mutations in the fatty acid 2-hydroxylase gene are linked
  Orphan Drugs
  Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation
  Geroderma osteodysplastica is caused by mutations in SCYL1BP1
  Joubert syndrome: CC2D2A is mutated
  Primary ciliary dyskinesia: DNAI2 mutations at cause
  Progressive myoclonus epilepsy-ataxia syndrome: a homozygous mutation in human PRICKLE1 is at cause
  Cousin syndrome: TBX15 insufficiency causes craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature
  Glutaric aciduria type 3: genetic mapping to chromosome 7 and identification of mutations in c7orf10
  Spondylocostal dysostosis: mutation of hairy-and-enhancer-of-split-7 at cause in humans
  Genital hypoplasia and severe skeletal defects: loss of function of the PLZF gene at cause

  Research in Action
  Fundamental Research
  Six EMEA orphan drug designations for December
  Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium
  Clinical Research
  Myotonic dystrophy type 2 found in two of sixty-three persons diagnosed as having fibromyalgia
  The Human Phenotype Ontology: a tool for annotating and analysing human hereditary disease
  The 17q21.31 microdeletion syndrome: a clinical and molecular delineation
  Genetic testing for paediatric neurological disorders
  Primary progressive aphasia: Abeta amyloid and glucose metabolism in three variants
  Chromosome 6q16 deletion: detailed phenotype-genotype study narrows the critical region for Prader-Willi-like phenotype
  Infantile spinocerebellar ataxia and mitochondrial recessive ataxia syndrome associated with neuronal complex I defect and mtDN
  Retroperitoneal fibrosis: asbestos-related pleural and lung fibrosis in patients
  Gene Therapy
  Xeroderma pigmentosum: homing meganucleases constitute a possible strategy for repairing DNA lesions
  Diagnostic Approaches
  Autoimmune polyendocrinopathy syndrome type I: autoantibodies against type I interferons as an additional diagnostic criterion
  Inherited epidermolysis bullosa with pyloric atresia: prenatal diagnosis by immunofluorescence analysis of villous trophoblasts

  Patient Management and Therapy
  What process attributes of clinical genetics services could maximise patient benefits?
  Prader-Willi syndrome: recommendations for diagnosis and management
  Behcet disease: EULAR management recommendations
  Refractory inflammatory myopathies: a high incidence of disease flares in an open pilot study of infliximab
  Neuroblastoma: virus-specific T cells engineered to coexpress tumour-specific receptors


  Partnersearch, Job Opportunities
  Network of Excellence CliniGene seeks pharmacist or MD specialising in gene transfer & therapy regulation oriented research

  What's on Where?
  The Multiple Faces of Lamins in Aging and Disease
  EuroGentest Workshop: Validation of Diagnostic Tests in Clinical Molecular Genetics
  IBC Conference: Ushering in the New Era of Orphan Disease R&D, Clinical & Business Strategies
  International Conference on Rare Diseases and Orphan Drugs (ICORD 2009)
  Second International Rare Disease Day
  BPSU 2009 Conference
  3rd International Congress on Rare Pulmonary Diseases and Orphan Drugs
  Drug Information Agency 21st Annual EuroMeeting
  Molecular Mechanisms of Neurodegeneration
  7th World Congress on Melanoma
  8th Balkan Meeting on Human Genetics
  12th International Congress on Neuronal Ceroid Lipofuscinoses
  Fourth International Conference on Birth Defects and Disabilities in the Developing World

  Press & Publications
  Everything you need to know about rare diseases in Spain
  Behind the genes: Schuyler’s Monster offers the reader a poignant reminder of why we keep trudging forward

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