| OrphaNews Europe : 10 October 2015 |
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| Editorial |
| RD-ACTION: the new European Joint Action |
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| Spotlight on... |
| Working for rare diseases: EUCERD Joint Action draws to a close and looks to the future |
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| EU Policy News |
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| EMA |
| Submit expressions of interest to represent civil society at the EMA |
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| National & International Policy Developments |
| Comprehensive policy for patients with rare diseases in Philippines |
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| Other European news |
| The rare disease persons card implementation in Portugal |
| Sample of the adult British population want genetic testing of children for adult-onset conditions |
| Sample of Danish population want disclosure of incidental findings from NGS studies |
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| Other International News |
| Discussion paper by the Australian government to support people with chronic and complex health conditions |
| Contradictions of public health policies geared to rare disorders in Brazil |
| Sickle cell disease among children in Africa |
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| Guidance Documents and Recommendations |
| 22q11.2 deletion syndrome: guidelines for the management |
| Cushing syndrome: guidelines on treatment |
| Congenital hypogonadotropic hypogonadism: European consensus statement on diagnosis and treatment |
| Pemphigus vulgaris/foliaceus and bullous pemphigoid: guidelines for the treatment |
| Facioscapulohumeral dystrophy: guidelines on evaluation, diagnosis and management |
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| Bioinformatics, Registries and Data Management |
| How do paediatric biobanks look at various aspects of obtaining consent from the paediatric population |
| Long tail economics and rare disease research: the impact of next generation sequencing for rare mendelian disorders |
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| Screening and Testing |
| Regulating laboratory developed tests in the United States: the current controversy |
| Article reviewing the limits of FDA's authority to regulate laboratory developed diagnostic tests |
| Newborn screening in Australia: current environment and future perspectives |
| Patenting Genetic diagnostic methods |
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| Ethical, Legal & Social Issues |
| Living with Marfan syndrome: the patients view |
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| New Syndromes |
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| Developmental delay, microcephaly and hypomyelination associated with mutations in SLC1A4 |
| Novel oculo-skeletal syndrome with intellectual disability caused by a MAB21L2 mutation |
| Syndromic intellectual disability with variable clinical presentation due to mutations in DDX3X |
| Novel 3q28 microdeletion phenotype leading to haploinsufficiency of TP63 |
| New type of lysosomal storage disease characterized by spastic paraplegia, neuropathy, parkinsonism and/or cognitive impairment linked to AP5Z1 mutations |
| Progressive myoclonus epilepsy with early ataxia caused by mutation of LMNB2 |
| Intellectual disability, hypotonia, epileptic susceptibility, frontal bossing, mild hypertelorism, and palpebral fissures caused by PPP2R5D and PPP2R1A mutations |
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| New Genes |
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| Rett syndrome-like phenotype caused by a de novo deletion of PTPN4 in identical twins |
| 22q11.2 deletion syndrome: PRODH, ADNP2 and ZFPM2 involved in the phenotype |
| X-linked intellectual disability due to THOC2 mutations in four families |
| Lethal ciliopathies ranging from hydrolethalus to short rib-polydactyly syndrome, Majewski type and Beemer-Langer type, caused by mutations in KIAA0586 |
| Coenzyme Q10 deficiency linked to an alteration in COQ2 in a patient |
| Severe epileptic encephalopathy and complex movement disorder due to compound heterozygous mutations in CARS2 in a child |
| Overgrowth syndrome linked to de novo mutations in PPP2R5B, PPP2R5C and PPP2R5D |
| Non-syndromic early-onset cone rod dystrophy associated with mutations in ALMS1 in a family |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome caused by a homozygous loss-of-function variant in MYH11 |
| Heterotaxia and situs inversus totalis associated with a homozygous WDR16 deletion |
| Familial idiopathic steroid-resistant nephrotic syndrome caused by COL4A3 mutations |
| Small cell lung cancer: somatic mutations in TP53, TP73 and RB1 |
| Clear cell sarcoma of the kidney due to consistent in-frame internal tandem duplications of BCOR |
| Fetal akinesia deformation sequence: homozygosity mapping in two fetuses revealed MUSK as a candidate gene |
| Language impairment, autism spectrum disorder and intellectual disability might be associated with ELP4 deletions |
| Keratoconus: WNT10A exonic variant increases the risk of disease |
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| Research in Action |
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| Clinical Research |
| Dravet syndrome: vaccination-associated seizure onset does not affect disease course, while the risk of subsequent vaccination associated seizures seems vaccine-specific |
| Progressive familial intrahepatic cholestasis type 2: improvement of cholestasis with 4-phenylbutyrate |
| Alpha-1-antitrypsin deficiency: purified α1 proteinase inhibitor augmentation treatment slows progression of emphysema |
| Recessive dystrophic epidermolysis bullosa: promising efficacy and tolerance with systemic allogeneic mesenchymal stromal cell therapy |
| Facioscapulohumeral dystrophy: regular aerobic training with or without post-exercise protein-carbohydrate supplementation improves fitness |
| Extranodal nasal NK/T cell lymphoma: Epstein-Barr virus latent membrane protein 1 and 2a transfer as a safe and effective post-remission therapy |
| Biliary tract cancer: cediranib in combination with cisplatin and gemcitabine does not improve the progression-free survival of patients |
| Paraganglioma in pregnancy: a case series and review of the literature |
| Salla disease: 13-year follow-up of Finnish patients |
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| Therapeutic Approaches |
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| Jervell and Lange-Nielsen syndrome: review on human induced pluripotent stem cell models |
| Huntington disease: fingolimod enhances hippocampal synaptic plasticity and memory in mice |
| Ebola hemorrhagic fever: aerosolized vaccine protects macaques exposed to the virus |
| Dystrophic epidermolysis bullosa: high local concentrations of intradermal mesenchymal stromal cells restore skin integrity and facilitate wound healing in a mouse model |
| Retinitis pigmentosa: ciliary neurotrophic factor gene therapy confers lifelong neuroprotection in a mouse model |
| Leber congenital amaurosis and retinitis pigmentosa: mitigated results with adeno-associated virus-mediated gene therapy in mouse models |
| Duchenne muscular dystrophy: galectin-1 protein therapy prevents pathology and improves muscle function in the mdx mouse model |
| Steinert myotonic dystrophy: recombinant adeno-associated viral vectors injected intravenously reduce disease pathology in muscles of mice |
| Fragile X-associated tremor/ataxia syndrome: new inducible mouse model |
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| Diagnostic Approaches |
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| Walker-Warburg syndrome: chromosomal microarray analysis as a first-line diagnostic test in patients with a fetus with one or more major structural abnormalities identified |
| Distinct optical coherence tomography patterns clearly differentiates Susac syndrome from relapsing-remitting multiple sclerosis |
| CARASIL: characteristic features and progression of abnormalities on magnetic resonance imaging |
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| Patient Management and Therapy |
| Cystic fibrosis: review on tiotropium bromide and tobramycin for the treatment |
| Fanconi anemia: review on gene therapy |
| Lymphangioleiomyomatosis: review on new treatments |
| Blepharospasm: review on alternatives to botulinum toxin for the management Id: |
| Congenital hyperinsulinism: review on molecular mechanisms, therapeutic targets and management |
| Kawasaki disease: a review |
| Paediatric rheumatology: review on lessons from oncology to optimize treatment |
| Metachromatic leukodystrophy: review on hematopoietic stem cell transplantation |
| B-cell non-Hodgkin lymphoma: review on the treatment |
| Huntington disease: a review |
| MECP2 disorders: a review |
| Glycogen storage disease due to acid maltase deficiency: a review |
| Congenital generalized lipodystrophies: a review |
| Ribosomopathies: a review |
| Duchenne muscular dystrophy: a review |
| Familial dilated cardiomyopathy: review on diagnosis, prevalence and screening |
| Tuberous sclerosis: review on pathophysiology |
| West-Nile encephalitis: a review |
| Idiopathic interstitial pneumonias with connective tissue diseases features: a review |
| Primary biliary cirrhosis and primary sclerosing cholangitis: a review |
| Eosinophilic esophagitis and gastroenteritis: a review |
| T-cell large granular lymphocyte leukemia: review on pathogenesis and treatment |
| One new and nine updated GeneReviews published |
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| Orphan Drugs |
| Analysing the ability of fulfilling the obligations of conditionally approved drugs in Europe |
| Wanted: new models of pricing and reimbursement for gene therapies |
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| Regulatory News |
| FDA approves new orphan drug to treat 20 patients worldwide |
| New treatment option for patients with multiple myeloma |
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| Grants |
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| Medical Research Grant Application Guidelines : Progeria Research Foundation |
| AFM Telethon: Call for proposals |
| Neuronal Ceroid Lipofuscinosis Research Award |
| BMBF Funding initiative: innovative stem cell technologies for personalized medicine |
| 8th Call for SMA research proposals |
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| Partnersearch, Job Opportunities |
| ECRIN ERIC job vacancies |
| Civil Society representatives: Call for expression of interest is open for the EMA Management Board |
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| Courses & Educational Initiatives |
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| The 2nd Biennial Australian Rare Lung Disease Short Course |
| Courses offered by Recordati Rare Diseases Foundation |
| EMA workshop on demonstrating significant benefit of orphan medicines |
| European Cytogenetesists Association |
| EMA workshop on pre-licencing activities |
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| What's on Where? |
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| CLIMB Newborn Screening Conference |
| Xth Annual ICORD Meeting, part of the Global Rare Diseases Week, Mexico |
| 6th South Eastern European Cystic Fibrosis Conference |
| NORD Summit |
| 13th Annual Congress Of International Drug Discovery Science & Technology, Therapy And Expo‐2015 |
| The BioData World Congress 2015 |
| 6th World Congress on Targeting Mitochondria |
| The AANEM Annual Meeting |
| 4th European Congress on Rett Syndrome |
| First European Congress on Hereditary ATTR amyloidosis ECATTR |
| 2nd International Primary Immunodeficiencies Congress (IPIC) |
| Sixth Croatian Congress of Human Genetics |
| 16th International Conference on Human Genome Variation and Complex Genome Analysis |
| Statistical analysis of massive genomic data |
| The Rett Syndrome Journey: Pathways to Follow |
| 6th European Symposium on rare anaemias - 1st Dutch-Belgian meeting for patients and health professionals |
| International Conference on Sanfilippo Syndrome and related Lysosmal Storage Diseases |
| Clinical trials in small populations : Methodological challenges and solutions |
| CDDF-SIOPE-ENCCA-ITCC 4th Paediatric Oncology Conference |
| CDDF-SIOPE-ENCCA-ITCC 4th Paediatric Oncology Conference |
| BPSU Rare Disease Conference 2016 |
| Clinical Innovation & Outsourcing |
| The RE(ACT) Congress |
| MYOLOGY 2016 Fifth International Congress of Myology |
| 13th International Congress of Human Genetics (ICHG) 2016 |
| 8th Alstrom Syndrome International Conference |
| 17th EMSOS Nurse and allied professional Group Meeting |
| European Association of Centres of Medical Ethics Conference |
| 9th ISNS International meeting/10th ISNS European Regional meeting |
| ESID European Society for Immunodeficiencies: Biennial meeting |
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