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OrphaNews Europe : 29 February 2012
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Editorial
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Today is our day!
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International Rare Disease Day calls for a show of solidarity around the world as a record number of countries join hands to raise awareness
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EUCERD update
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The EUCERD loses a cherished member: Torben Gronnebaek
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Defeating the lion: a perspective on solidarity from the EUCERD
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Test your rare disease knowledge!
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EU Policy News
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Commission data protection reform affects medical information too
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DG SANCO
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New video from the DG Sanco explains how medicinal products are authorised in the EU
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EMA
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Confidentiality arrangement with Japan extended another year
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European Medicines Agency publishes guideline on use of pharmacogenetics in evaluating pharmacokinetics of medicines
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National & International Policy Developments
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Other European news
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Finland forms national rare disease umbrella group
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Other International News
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Three articles take stock of the USA’s Undiagnosed Diseases Program
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Investigational new drugs for rare diseases: a statement from the Society for Inherited Metabolic Disorders
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Guidance Documents and Recommendations
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New guidance available for the mitochondrial syndromes
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Bioinformatics, Registries and Data Management
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Assuring quality in institution-based neonatal rare disease prospective inception cohort studies
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Screening and Testing
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New on the marketplace: an optimised service for rare disease sequencing and analysis
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New report seeks to improve the application of genomic technologies in the UK
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Ethical, Legal & Social Issues
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A survey of legislation for genetic testing in Western Europe
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What is the experience of parents choosing to continue a pregnancy for which a genetic disorder has been detected?
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EU Project Follow-up
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The evolution of an international registry from an FP7-funded initiative: the International Disorders of Sex Development Registry
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New Syndromes
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A childhood encephalopathy caused by thiamine pyrophosphokinase deficiency
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Ichthyosis, intellectual disability, and spastic quadriplegia due to recessive mutations in ELOVL4
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A unique and complex tooth malformation phenotype reveals SMOC2 as an early dental developmental gene
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Dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss mapping to 3p21.3
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DAVID: a new association consisting in Deficit in Anterior pituitary function and Variable Immune Deficiency
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Ketamine-induced biliary dilatation: a new entity linked to drug of abuse
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A new X-linked intellectual deficit syndrome
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New Genes
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Neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation: homozygous mutation in LIAS identified in a boy
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Joubert syndrome and related disorders: identification of mutations in TMEM237
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Spondyloepimetaphyseal dysplasia with multiple dislocations: KIF22 is responsible
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Familial flecked retinopathy: biallelic mutations found in PLA2G5 in benign form
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Congenital aural atresia (microtia): disruption of teashirt zinc finger homeobox 1 (TSHZ1) at cause
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Early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD): mutations in MEGF10 are responsible
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Paroxysmal kinesigenic dyskinesia, ICCA syndrome, and benign familial infantile seizures: mutations in PRRT2 identified
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Autosomal recessive primary microcephaly: the centrosomal gene CEP63 is mutated in a family
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Familial digital arthropathy-brachydactyly: TRPV4 mutations reducing channel activity at cause
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Frontotemporal dementia with or without motor neuron disease: three research groups report on the pathogenicity of a GGGCC repeat expansion in C9ORF72
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Isolated NADH-CoQ reductase deficiency: defective NDUFA9 is a novel cause of neonatally fatal disease
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Split hand - split foot: identification of a DLX5 mutation in a family with autosomal recessive disease
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Autosomal recessive progressive external ophthalmoplegia: TK2 (thymidine kinase 2) mutations can underlie the disease
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Osteogenesis imperfecta type 3: a mutation causing deficient BMP1 proteolytic activity is responsible in a family with autosomal recessive disease
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Kawasaki disease: FCGR2A is a susceptibility locus
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Enchondromatosis (Ollier disease) and Maffucci syndrome: somatic mosaic IDH1 and IDH2 mutations are associated
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Research in Action
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Fundamental Research
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Rubinstein-Taybi syndrome: histone acetylation defects, mainly involving H2B and H2A, identified in lymphoblastoid cell lines from patients
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Rett syndrome: the two MeCP2 splice variants can substitute for each other and fulfill the basic functions of MeCP2 in the mouse brain
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Athabaskan brainstem dysgenesis and Bosley-Salih-Alorainy syndromes: severe cardiovascular malformations in a mouse model (Hoxa1 null mice)
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Aneuploid syndromes: induced pluripotent stem cells from patients can model early embryogenesis
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Fragile X-associated tremor/ataxia syndrome: activation of gypsy retrotransposon can modulate CGG repeats-mediated neurodegeneration in a drosophila model
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Proximal spinal muscular atrophy: severe neuromuscular denervation of clinically relevant muscles, amendable by trichostatin A treatment, in a mouse model
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Huntington disease: IRE1 plays an essential role in endoplasmic reticulum stress-mediated aggregation of mutant huntingtin via the inhibition of autophagy flux
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Neurofibromatosis type 1: ANRIL is a modifier gene, which influences the number of plexiform neurofibromas
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Retinitis pigmentosa: C1q enhances cone photoreceptor survival in a mouse model of autosomal recessive disease
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Clinical Research
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Graft-versus-host disease: low-dose interleukin-2 can reverse chronic disease
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Hereditary nonpolyposis colon cancer: CAPP2 long-term results show that aspirin is an effective chemopreventive agent for colorectal cancer
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Advanced neuroendocrine tumours associated with carcinoid syndrome: positive effect of everolimus plus octreotide long-acting repeatable
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Renal cell carcinoma: superiority of axitinib over sorafenib as second-line therapy in patients with advanced disease
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Glycogen debranching enzyme deficiency: successful experimental treatment of severe cardiomyopathy in an infant
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Juvenile idiopathic arthritis: factors associated with treatment response to etanercept
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Huntington disease: report of potential endpoints for clinical trials in premanifest and early disease (24 month results of TRACK-HD study)
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Meningioma: a meta-analysis of individual paediatric patient data
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Myotonic muscular dystrophy types 1 and 2: patients are at increased risk of malignancy
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Facioscapulohumeral dystrophy: patients with a phenotype consistent with the disease display genetic and epigenetic heterogeneity
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Sirenomelia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research
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Gene Therapy
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Menkes disease: ATP7A gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a mouse model
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Huntington disease: progresses towards reduction of huntingtin expression in vitro and in animal models
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Neuroblastoma: favourable effects of selective therapeutic targeting of the anaplastic lymphoma kinase with liposomal siRNA in mice
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Steinert myotonic dystrophy: stabilisation of expanded CTG repeats in DMPK gene by antisense oligonucleotides
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Therapeutic Approaches
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Haemophilia: a zymogen-like factor Xa variant corrects the coagulation defect in mouse models
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Diagnostic Approaches
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Osteogenesis imperfecta: European Molecular Genetics Quality Network (EMQN) guidance for laboratory diagnosis
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Huntington disease: discrepancies in reporting the CAG repeat lengths reinforce the need to participate in external quality assessment schemes
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Alport syndrome: advances in diagnosis using next-generation sequencing
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Patient Management and Therapy
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Erdheim-Chester disease: clinical, radiological, prognostic, and therapeutic features
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Sickle cell anaemia: a comprehensive review of the literature on children management
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Spina bifida: providing a primary care medical home for children and youth
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Three new Clinical Utility Gene Cards available
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Orphan Drugs
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Political and Scientific News
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An assessment of Belgium’s orphan drug reimbursement decision process
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Grants
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Two separate funding announcements for Niemann-Pick disease research
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Partnersearch, Job Opportunities
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Career opportunity: Inaugural Director of the Center for Orphan Disease Research and Therapy at University of Pennsylvania
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Courses & Educational Initiatives
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Tenth European Course on the Evaluation of Medicinal Products in Children
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The European School of Genetic Medicine celebrates its 25th anniversary with special courses
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OroDysmorphology Course
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Goldrain Courses in Clinical Cytogenetics and Prenatal Genetic Diagnosis
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Master of Science in Haemoglobinopathy
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Orphan Academy 2012 Programme
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EuroGentest Quality Management and Accreditation/Certification of Genetic Testing Workshops
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What's on Where?
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Second ASID Congress of the African Society for Immunodeficiencies
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European Organisation for Research and Treatment of Cancer (EORTC) 50th Anniversary Conference
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Genomic Disorders 2012
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The Fourth BHD Symposium for Birt-Hogg-Dubé syndrome
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13th International Conference on Neuronal Ceroid Lipofuscinosis and 1st Worldwide Meeting of Batten Disease Int'l Alliance
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International Symposium on Hepatic Glycogen Storage Diseases
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Fourth International Meeting on Primary Central Hypoventilation Syndromes
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Myomatrix 2012 Conference
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8th International Congress on Autoimmunity
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CILIA 2012 - Cilia in Development and Disease Date: 16-18 May 2012
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Sixth International Alkaline Phosphatases Symposium
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6th European Conference on Rare Diseases & Orphan Products
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5th International Conference on Ectodermal Dysplasia (ED2012)
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10th International Primary Hyperoxaluria Workshop
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European Human Genetics Conference 2012
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European Working Group on Gaucher Disease Meeting
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World Federation of Hemophilia World Congress
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Retina International World Congress
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7th European Elastin Meeting
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First International Symposium on the Ehlers-Danlos Syndrome
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3rd Pan-European Conference on Haemglobinopathies and Rare Anaemias: Towards the Future
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10th Asia-Pacific Conference on Human Genetics
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8th International Prader-Willi Syndrome Conference
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Media, Press & Publications
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Children's Upper and Lower Limb Orthopaedic Disorders
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Diagnosis and Management of Adult Congenital Heart Disease
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Did Elizabeth Barrett Browning have a rare disease?
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