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OrphaNews Europe : 28 March 2012
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Editorial
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EUCERD Joint Action kick-off meeting reviews the work plan designed to help implement the Council Recommendation on an action in the field of rare diseases
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EU Policy News
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New European Commission proposal would give patients faster access to medicines
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National & International Policy Developments
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Other European news
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Czech Republic lays groundwork for the Czech Association for Rare Diseases
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Born Healthy Needs Assessment toolkit for congenital disorders now available
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British Paediatric Surveillance Unit issues 25th annual report
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EPPOSI releases 2012 work plan in the field of rare diseases
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Other International News
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New funding scheme kick-starts early-stage applied rare disease research
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Two new rare disease studies for Alport syndrome and for giant axonal neuropathy seek paediatric trial participants
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Vietnam to expand prenatal and newborn screening networks
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Guidance Documents and Recommendations
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Clinical practice guidelines for Wilson disease now available from the European Association for the Study of the Liver (EASL)
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Bioinformatics, Registries and Data Management
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Diagnosis and prevalence rates of rare chromosome anomalies from the European Surveillance of Congenital Anomalies
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Pilot programme launched to establish Global Rare Diseases Patient Registry and Data Repository
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How to coordinate the process from gene variant discovery to the production of guidelines that serve medicine?
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A framework for evaluating small area variations in care infrastructure for rare disease diagnostics and health outcomes
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Screening and Testing
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A framework for identifying rare variants in complex diseases and determining an optimal study design
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Ethical, Legal & Social Issues
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Paediatric patients faring well under Orphan Drug Act in the USA
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Measures similar to orphan drug incentives sought to combat stagnating antibiotic research and develop treatments for resistant strains
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EU Project Follow-up
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World’s largest study on relapse of childhood cancer acute lymphoblastic leukaemia
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Orphanet News
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2011 annual activity report showcases the first achievements of the Orphanet Europe Joint Action
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New Orphanet Journal of Rare Diseases publications
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New Syndromes
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Atonal homolog 7 mutations induce multiple eye developmental defects
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Atypical cold urticaria, immunodeficiency and autoimmunity caused by a temperature-sensitive signaling defect in B cells
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Early-onset gigantism associated with mammosomatotroph hyperplasia
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New Genes
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Hypothyroidism with borderline abnormal thyroid hormone levels due to a THRA mutation
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Fibrochondrogenesis: mutations in COL11A2 induce dominant or recessive forms
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A novel etiology of polycystic and dysplastic kidneys due to mutations of BICC1 domains involved in the Wnt pathway inhibition
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Neural tube defects: novel mutations affecting planar cell polarity identified in two genes
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Mutations in STRA6 involved in reduced vitamin A uptake activity and isolated colobomatous microanophtalmia
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PIK3R5 and neurological disorders: first link found in a family with ataxia and oculomotor apraxia
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Craniorachischisis is a neural tube defect likely due to mutations in planar cell polarity genes
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Idiopathic epilepsy: nonion channel gene mutations found in some simple and complex febrile seizures and temporal lobe epilepsy
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Dysspondyloenchondromatosis: mutations in one patient suggest a link with type II collagen disorder
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Pulmonary arterial hypertension: Smad signalling pathway seems to have little involvement
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Research in Action
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Fundamental Research
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Mice with MYH9 mutations mimic hematologic, eye and kidney defects of human MYH9-related disease
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Cherubism: mutations in the 3BP2 gene disrupt its Tankirase-mediated regulation and cause the disease
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X-linked myotubular myopathy: a murine MTM1 model more workable than MTM1 KO mice
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Niemann-Pick type C disease : a novel mouse model best suited to the milder, late-onset forms study
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Clinical Research
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Pulmonary arterial hypertension: a drug for adult tested in children
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An Austrian neonatal screening of lysosomal storage disorders showed higher than expected birth incidence
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Diagnosis of congenital disorders of glycosylation: next generation sequencing more efficient than gene-by-gene approach
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Mutations in cardiac depolarizing channels in infancy onset of Brugada syndrome
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Kawasaki disease: lower occurrence of coronary artery lesions with initial treatment including ulinastatin, a urinary trypsine inhibitor
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Adjuvant capecitabine and oxaliplatin improved survival of gastric cancer patients after D2 gastrectomy
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Haemophilia B: recombinant factor IX-Fc fusion protein may provide prolonged hemostatic protection not inducing inhibitory secretion
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Refractory Kawasaki disease: immunoglobulin therapy is safe and efficient when combined with corticosteroids
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A national study reveals 6% of vertebral fractures cases in children with rheumatic disorders 12 months after glucocorticoid initiation
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Autoimmune disorders are associated with a high risk of pulmonary embolism in the first year after hospital admission
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Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1): most patients can adapt to their home and school environment
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5-year survival in women with invasive epithelial ovarian cancer: BRCA2 mutations carriers have the best prognosis
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Systemic sclerosis: IL12RB2 and IRAK1 genes involved, suggesting an influence of interleukin 12 signalling pathway and a sex chromosome
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Stem Cells
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Stargardt macular degeneration: visual acuity improved after embryonic stem cell therapy
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Pluripotent stem cells vs embryonic stem cells in research and therapeutic
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Gene Therapy
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γ-Sarcoglycanopathy: AAV vector allows γ-sarcoglycan replacement
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X-linked retinitis pigmentosa: photoreceptors preserved after subretinal injections of the RPGR gene in dogs
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Dominant retinitis pigmentosa: efficiency of shRNA therapy in a murine model
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Amyloidosis AL: siRNAs against amyloidogenic production
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Haemophilia A: FIX variant bypasses FVIII and rescues coagulation in mice
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Neuronal ceroid lipofuscinosis: efficiency of gene replacement therapy can be optimise using molecular imaging methods
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HNF1α inhibits tumorigenicity in mice with hepatocellular carcinoma: an encouragement to cancer differentiation therapy
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Ataxia-telangiectasia: screening and functional characterization of ATM mutations in order to develop therapies
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Human artificial chromosome : a tool for the study of gene functions and the correction of gene deficiencies
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Therapeutic Approaches
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Retinoblastoma: the therapeutic promises of epigenetics
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Achondroplasia: toward treatments promoting bone growth inhibiting constitutive FGFR3 phosphorylation?
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Diagnostic Approaches
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Pitt-Hopkins syndrome: a comprehensive diagnostic strategy based on TCF4 coding regions study
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Hairy cell leukaemia: Detection of the BRAF-V600E mutation improved diagnosis and differentiation with respect to HCL-like disorders
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Patient Management and Therapy
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Three new Clinical Utility Gene Cards available
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von Hippel-Lindau disease: an annual audiometry recommended for endolymphatic sac tumour surveillance
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Gastroenteropancreatic neuroendocrine tumour: multidisciplinary guidelines for disease management
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Thalassemia in the time of gene therapy
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Orphan Drugs
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Regulatory News
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Rejection of advanced therapy product Glybera calls into question the role of the Committee on Advanced Therapies in the European Medicines Agency
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Helping move advanced therapy medicinal products down the development pipeline
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Political and Scientific News
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Orphan medicine costs in Europe expected to plateau at approximately 4.6% of total pharmaceutical expenditure by 2016
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Partnersearch, Job Opportunities
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EUCERD Joint Action: working on bringing rare disease policy into action
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Courses & Educational Initiatives
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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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Epidermolysis Bullosa – An Introduction and Advanced Management courses
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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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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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World Pulmonary Hypertension Day-Scientific Symposium
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8th International Congress on Autoimmunity
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CILIA 2012 - Cilia in Development and Disease
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Sixth International Alkaline Phosphatases Symposium
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12th International Conference on Myasthenia Gravis and Related Disorders
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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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1st European Conference on Aniridia
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10th International Primary Hyperoxaluria Workshop
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European Human Genetics Conference 2012
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11th Conference of the International Association of Bioethics: Bioethics and the Future, and the Future of Bioethics
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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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15th biannual Meeting fo the European Society for Immunodeficiencies
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Mechanisms of Intellectual Disability: From Genes to Treatment
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3rd Pan-European Conference on Haemglobinopathies and Rare Anaemias: Towards the Future
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The Second Joint International Symposium on Neuroacanthocytosis and Neurodegeneration with Brain Iron Accumulation
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International Ataxia Research Conference
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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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A renowned guide to the medical management of genetic syndromes has been revised and expanded
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An overview of cryoglobulinemias
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Iron metabolism and iron-overload diseases
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