Fwd: Orphanews Europe 18 July 2013

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José Antonio Navarro

Jul 18, 2013, 1:23:08 PM7/18/13
---------- Mensaje reenviado ----------
De: <orphanew...@orpha.net>
Fecha: 18/07/2013 02:28
Asunto: Orphanews Europe 18 July 2013
Para: <jana...@yahoo.es>

OrphaNews Europe : 18 July 2013
The 2013 edition of the report on the State of the Art of Rare Disease Activities in Europe is now online, offering a wealth of information on EU and Member State initiatives

Spotlight on...
The Spanish Rare Diseases Registries Research Network
Interview of Dr Manuel Posada, coordinator of the Spanish Rare Diseases Registries Research Network (SpainRDR)

EU Policy News
Recommendations by The German Ethics Council and the Genetic Diagnostics Commission for the Future of Genetic Diagnosis
The policy for public health genomics in Italy
Draft policy on the publication and access to clinical-trial data by EMA: open for public consultation

National & International Policy Developments
UK Government moves another step forward to allow Mitochondrial Replacement
Other European news
Barriers to chronic care evaluation in six European countries
Dystrophic Epidermolysis Bullosa in Spain: the need for reference centers discussed in two papers
Europlan Conference in Romania: a summary
Other International News
Guidance Documents and Recommendations
New emergency guidelines and documents on Orphanet
Prader-Willi syndrome: consensus guidelines for recombinant human growth hormone therapy
Bioinformatics, Registries and Data Management
Study identifies prevalence of hereditary hemorrhagic telangiectasia by using US health insurance data
Screening and Testing
National Newborn Screening Programme for Congenital Hypothyroidism in Turkey
Niemann-Pick disease type C in adults underepresented: findings from the ZOOM study

Ethical, Legal & Social Issues
Orphacol prevails at the European Union General Court
Three million euros granted to unproven stem cell treatment by the Italian government
Online global patient network RareConnect.org continues to grow with new community for Lowe syndrome
Survey demonstrates the extensive usage of internet among Italian families of patients with rare disease
General population v/s doctors on allocation of funds for rare disease patients

New Syndromes
Identification of a novel syndrome of intellectual disability with microcephaly and growth retardation linked to de novo mutations in CTCF
Description of an unrecognised progeria syndrome with prominent cutaneous and cardiovascular manifestations associated to an LMNA heterozygous mutation
Unique X-linked Australian familial focal segmental glomerulosclerosis with progressive heart block disorder due to a mutation in the NXF5 gene

New Genes
Cone rod dystrophy associated with an homozygous nonsense mutation in RAB28
Severe congenital nemaline myopathy frequently caused by loss-of-function mutations in KLHL40
Homozygous truncating and missense mutations in B4GALNT1 responsible for complex hereditary spastic paraplegia
Congenital and limb-girdle muscular dystrophy: identification of GMPPB mutations in eight unrelated individuals
1p36 deletion syndrome: minimal deletion of the transcription factor PRDM16 is responsible for the cardiomyopathy
Autosomal recessive nonsyndromic sensorineural deafness type DFNB linked to missense mutations in three unrelated Pakistani families
Noonan syndrome caused by gain-of-function mutations in RIT1
Multisystem disorder with lipodystrophy: discovery of a recurring heterozygous single-codon deletion in POLD1 affecting the polymerase active site
Lennox-Gastaut syndrome: de novo CHD2 and SYNGAP1 mutations are new causes of epileptic encephalopathies
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2: reporting of novel compound heterozygous mutations in TRIM2 gene in one patient
X-linked parkinsonism with spasticity due to altered splicing of ATP6AP2
Reticulate acropigmentation of Kitamura: whole exome sequencing identifies a mutation in ADAM10
Ehlers-Danlos syndrome: musculocontractural type identified as the result of a loss of DES function in a male child
Isolated cytochrome C oxidase deficiency: homozygous deletion of CEP89 found in one patient with isolated complex IV deficiency, intellectual disability and multisystemic problems
Atrial septal defect, ostium secundum type: discovery of a susceptibility locus at chromosome 4p16 in a genome-wide association study

Research in Action
Clinical Research
Sarcoidosis: improvements in disease activity, lung function and quality of life after anti-TNF treatment
Lymphangioleiomyomatosis: low-dose sirolimus performs as well as the higher doses used for improving pulmonary function and decreasing chylous effusion
Monosomy 9q22.3 is associated with an increased risk of nephroblastomas which suggests the involvement of PTCH1 gene in the pathogenesis
Squamous cell carcinoma of head and neck: improvement of progression free-survival acceptable toxicity profile with panitumumab
Stem Cells
Amyotrophic lateral sclerosis: synergistic effects of the combined delivery of GDNF and VEGF neurotrophic factors in a rat model
Therapeutic Approaches
Hutchinson-Gilford progeria syndrome: targeting isoprenylcysteine methylation ameliorates disease in a mouse model of progeria
Dystrophic epidermolysis bullosa: intravenously injected recombinant human type VII restored skin integrity in two mouse models
Diagnostic Approaches
Cystic fibrosis and CFTR-related disorders: accurate and cost-effective approach of targeted-resequencing for molecular diagnosis in 92 patients
Behavioral variant frontotemporal dementia: executive function assessment and FTDC criteria support the diagnosis

Patient Management and Therapy
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency: up-to-date review of the clinical, molecular and genetic aspects
Craniopharyngioma: hypothalamus-sparing surgery decreases the occurrence of severe obesity without increasing the local recurrence rate
Rhizomelic chondrodysplasia punctata: routine cardiac evaluation should be included in the clinical management
Pulmonary arterial hypertension: discussion on the current epidemiologic aspects, diagnostic approaches, classifications, available therapies and future treatments
Inherited epidermolysis bullosa: review of current medical, surgical, and experimental therapies
Pemphigus: overview of treatment options based on data from prospective and retrospective studies as well as larger case series
Fabry disease: review of phenotype and enzyme replacement therapy clinical data in women and children
Myasthenia gravis: current treatments, orphan drugs and emerging therapies
Bullous pemphigoid: summary of therapies commonly used
Leiomyosarcoma: extensive review of the most relevant therapeutic options

Orphan Drugs
GSK invests in venture capital for orphan medicinal products
Regulatory News
FDA clarifies aspects of the Orphan Drug Act in the Final Rule document
Drisapersen receives breakthrough therapy degignation from FDA

Jérôme Lejeune Foundation - Research Projects
Care-for-Rare Science Award 2013
NORD announces seed grants for rare disease research

Partnersearch, Job Opportunities
Grantholder position for the establishment of the European Technological Platform on Rare Diseases

Courses & Educational Initiatives
Orphan Drug & Rare Disease Seminar: Accelerating access to therapeutic innovation

What's on Where?
8th International Prader-Willi Syndrome Conference
International Symposium on Urea Cycle Disorders (UCD)
International Congress of Inborn Errors of Metabolism
Orphan Drugs Summit 2013
2nd Conference of 'EB-CLINET - Clinical Network of EB Centres and Experts'
2nd International Symposium on Hypothalamic Hamartomas
EUROPLAN National Conferences Finland
Second Symposium on ATP1A3 in disease Genotype/Phenotype Correlations, modelling and identification of potential targets for treatment
1st Iberoamerican Conference on Rare Diseases
EUROPLAN National Conferences Poland
Mitochondrial Disease: Translating biology into new treatments
US Conference on Rare Diseases & Orphan Products: The New Era in Healthcare
The 10th Balkan Congress of Human Genetics and 2nd Alps Adria Meeting on Human Genetics (AABC2013)
Orphan Drugs and Rare Diseases
3rd European Rett Syndrome Conference Maastricht, “Research Update & Preventive Management”
Thalassemia International Federation World Congress
The 2nd International Workshop Rare Disease and Orphan Drug Registries
World Cord Blood Congress IV and Innovative Therapies for Sickle Cell Disease
EUROPLAN National Conferences Hungary
HGV2013: 14th International Meeting on Human Genome Variation and Complex Genome Analysis
First International Primary Immunodeficiencies Congress (IPIC)
EUROPLAN National Conferences The Netherlands
World Orphan Drug Congress 2013
EUROPLAN National Conferences Lithuania
EUROPLAN National Conferences Netherlands
EUROPLAN National Conferences Italy
EUROPLAN National Conferences Luxembourg
EUROPLAN National Conferences Serbia
EUROPLAN National Conferences France
EUROPLAN National Conferences Spain
EUROPLAN National Conferences Ireland
EUROPLAN National Conferences Belgium
14th International Congress on Neuronal Ceroid Lipofuscinoses (Batten Disease)

Media, Press & Publications
Immune-mediated neuropathies
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