Fwd: Orphanews Europe 4 July 2013

[José Antonio Navarro]

---------- Forwarded message ----------
From: <orphanew...@orpha.net>
Date: 2013/7/4
Subject: Orphanews Europe 4 July 2013
To: jana...@yahoo.es

OrphaNews Europe : 4 July 2013
	Editorial
		Scoping study published on the current state of European Reference Networks and future implications
	EUCERD update
		Executive Summary of the 8th Meeting of the EUCERD now available
	Spotlight on...
		International Rare Disease Research Consortium now a part of Global Alliance
	EU Policy News
		EU quality of health care policy: how much is too much interference for the Member States
		Other International News
			Guidance Documents and Recommendations
				American College of Medical Genetics and Genomics technical standards and guidelines: microarray analysis for chromosome abnormalities in neoplastic disorders
				ACMG position statement on prenatal/preconception expanded carrier screening:
				Cysticercosis: guideline of the evidence base for different treatment strategies in adults and children
				Emergency guidelines and documents on Orphanet
			Bioinformatics, Registries and Data Management
				From database to clinical trials: the case of juvenile neuronal ceroid lipofuscinosis (JNCL)
	Ethical, Legal & Social Issues
		Crediting OrphaNews for disseminating information published in the newsletter
		U.S supreme court says no to patenting human genes but yes to patenting cDNA
		Defining “incidental findings” and the underlying ethics
		Discussion of Ethics of Non-invasive prenatal testing for single gene disorders using hypothetical scenarios
	New Syndromes
		A novel syndrome of hypohidrosis and intellectual disability linked to COG6 deficiency
		Mutation in ADAT3 causes a novel autosomal recessive form of intellectual disability with strabismus
		Multisystemic failure including renal tubulopathy caused by a homozygous mutation in TWINKLE in three siblings
	New Genes
		Leukoencephalopathies due to ClC-2 chloride channel deficiency
		Familial exudative vitreoretinopathy: ZNF408 mutation identified in a large Dutch family
		Autosomal recessive limb-girdle muscular dystrophy caused by a novel homozygous splice site mutation in DES in two affected individuals of a consanguineous family
		C3 glomerulopathy: description of a novel pathogenic mechanism caused by a unique CFHR1 mutation
		Congenital dyserythropoietic anemia type 3 is caused by a novel mutation in kinesin family member, KIF23
		Aplasia cutis congenital verticis: novel link between BMS1, the cell cycle, and skin morphogenesis
		LINS, a modulator of the WNT pathway, is an indispensable gene to human cognition
		46,XY partial gonadal dysgenesis: novel androgen receptor mutation identified in one family
		Acute generalised exanthematous pustulosis: recessive mutations in the IL36RN gene
		Predisposition to encephalopathy with febrile status epilepticus due to genetic variation in ADORADA2
		Idiopathic ventricular fibrillation, not Brugada type: non-synonymous polymorphism in SEMA3A as a risk factor
		Congenital pulmonary venous return anomaly: identification of SEMA3D signalling defects
		Amyotrophic lateral sclerosis: involvement of CREST variants
		Congenital heart disease: a marked excess of de novo mutations in histone-modifying genes
		Meckel syndrome: likely pathogenic mutation in three novel candidate disease genes
		Oculocutaneous albinism: exome sequencing identifies SLC24A5 as a candidate gene
		Pituitary adenoma and pheochromocytoma/paraganglioma are associated with familial SDHA mutation
	Research in Action
		Clinical Research
			Atypical hemolytic uremic syndrome: terminal complement inhibitor eculizumab was associated with significant time-dependent improvement in renal function
			Urea cycle disorder: ammonia control and neurocognitive outcome with glycerol phenylbutyrate
			Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG: rituximab is ineffective in improving inflammatory neuropathy
			Mucopolysaccharidosis type 2: improvement in growth rate following idursulfase treatment
			Myelofibrosis with myeloid metaplasia: review and discussion of published and presented survival data on patients treated with ruxolitinib
			Kennedy disease: positive effect of clenbuterol on the disease progression
		Gene Therapy
			Rescue of the disease phenotypes of X-linked retinoschisis and Leber’s congenital amaurosis with a new evolved adeno-associated virus variant
		Therapeutic Approaches
			Transthyretin-related familial amyloid cardiomyopathy: AG10 inhibits amyloidogenesis and cellular toxicity
			Primary effusion lymphoma: strong rationale for the combined use of bortezomib and suberoylanilidehydroxamic acid
			Mucopolysaccharidosis type 1: enzyme replacement therapy started at birth improves outcome in difficult-to-treat organs
		Diagnostic Approaches
			Three Clinical Utility Gene Cards published in the European Journal of Human Genestic
			Isolated NADH-CoQ reductase deficiency: association of NUBPL mutations with a unique, consistent, and recognisable magnetic resonance imaging pattern
			Central nervous system lymphomas: CXCL13 and IL-10 as potentially important biomarkers
	Patient Management and Therapy
		Immune thrombocytopenic purpura: increased risk of venous thrombosis and sepsis after splenectomy
		PMM2-CDG syndrome: assessment of the occurrence of specific risk factors for thrombotic events
	Orphan Drugs
		Regulatory News
			Two medicinal products intended to treat rare diseases approved by EMA
			Japan approves Avastin for brain cancer
			22 positive opinions recommending orphan designation at the June 2013 COMP meeting
		Political and Scientific News
			French Brugada Association calls for enquiry into the depleting amount of Quinidine in the market
			Experts of chronic myeloid leukaemia Nature Biotechlogy addressing excessive drug prices
	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
		International Summer School “Clinical practice guidelines on rare diseases”
		The 1st radiz Rare Diseases Summer School
		International Summer School Rare Disease and orphan Drug Registries
		Orphan Drug & Rare Disease Seminar: accelerating access to therapeutic innovation
	What's on Where?
		Haemophilia centres certification system across Europe
		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
		EUROPLAN National Conferences Italy
		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 Luxembourg
		XIIIth International Congress on Neuromuscular Diseases (ICNMD)
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