Fwd: Orphanews Europe 18 July 2013

[José Antonio Navarro]

---------- Mensaje reenviado ----------
De: <orphanew...@orpha.net>
Fecha: 18/07/2013 02:28
Asunto: Orphanews Europe 18 July 2013
Para: <jana...@yahoo.es>
Cc:

OrphaNews Europe : 18 July 2013
	Editorial
		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
			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
		EMA
			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
	Grants
		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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