Fwd: Orphanews Europe 29 February 2012

[José Antonio Navarro]

En este día mundial de las enfermedades raras, os remito el boletín de OrphaNews por si os resultara de interés alguno de los temas tratados.

Saludos

---------- Forwarded message ----------
From: <orphanew...@orpha.net>
Date: 2012/2/29
Subject: Orphanews Europe 29 February 2012
To: jana...@yahoo.es

OrphaNews Europe : 29 February 2012
	Editorial
		Today is our day!
		International Rare Disease Day calls for a show of solidarity around the world as a record number of countries join hands to raise awareness
	EUCERD update
		The EUCERD loses a cherished member: Torben Gronnebaek
		Defeating the lion: a perspective on solidarity from the EUCERD
		Test your rare disease knowledge!
	EU Policy News
		Commission data protection reform affects medical information too
		DG SANCO
			New video from the DG Sanco explains how medicinal products are authorised in the EU
		EMA
			Confidentiality arrangement with Japan extended another year
			European Medicines Agency publishes guideline on use of pharmacogenetics in evaluating pharmacokinetics of medicines
	National & International Policy Developments
		Other European news
			Finland forms national rare disease umbrella group
		Other International News
			Three articles take stock of the USA’s Undiagnosed Diseases Program
			Investigational new drugs for rare diseases: a statement from the Society for Inherited Metabolic Disorders
			Guidance Documents and Recommendations
				New guidance available for the mitochondrial syndromes
			Bioinformatics, Registries and Data Management
				Assuring quality in institution-based neonatal rare disease prospective inception cohort studies
			Screening and Testing
				New on the marketplace: an optimised service for rare disease sequencing and analysis
				New report seeks to improve the application of genomic technologies in the UK
	Ethical, Legal & Social Issues
		A survey of legislation for genetic testing in Western Europe
		What is the experience of parents choosing to continue a pregnancy for which a genetic disorder has been detected?
	EU Project Follow-up
		The evolution of an international registry from an FP7-funded initiative: the International Disorders of Sex Development Registry
	New Syndromes
		A childhood encephalopathy caused by thiamine pyrophosphokinase deficiency
		Ichthyosis, intellectual disability, and spastic quadriplegia due to recessive mutations in ELOVL4
		A unique and complex tooth malformation phenotype reveals SMOC2 as an early dental developmental gene
		Dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss mapping to 3p21.3
		DAVID: a new association consisting in Deficit in Anterior pituitary function and Variable Immune Deficiency
		Ketamine-induced biliary dilatation: a new entity linked to drug of abuse
		A new X-linked intellectual deficit syndrome
	New Genes
		Neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation: homozygous mutation in LIAS identified in a boy
		Joubert syndrome and related disorders: identification of mutations in TMEM237
		Spondyloepimetaphyseal dysplasia with multiple dislocations: KIF22 is responsible
		Familial flecked retinopathy: biallelic mutations found in PLA2G5 in benign form
		Congenital aural atresia (microtia): disruption of teashirt zinc finger homeobox 1 (TSHZ1) at cause
		Early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD): mutations in MEGF10 are responsible
		Paroxysmal kinesigenic dyskinesia, ICCA syndrome, and benign familial infantile seizures: mutations in PRRT2 identified
		Autosomal recessive primary microcephaly: the centrosomal gene CEP63 is mutated in a family
		Familial digital arthropathy-brachydactyly: TRPV4 mutations reducing channel activity at cause
		Frontotemporal dementia with or without motor neuron disease: three research groups report on the pathogenicity of a GGGCC repeat expansion in C9ORF72
		Isolated NADH-CoQ reductase deficiency: defective NDUFA9 is a novel cause of neonatally fatal disease
		Split hand - split foot: identification of a DLX5 mutation in a family with autosomal recessive disease
		Autosomal recessive progressive external ophthalmoplegia: TK2 (thymidine kinase 2) mutations can underlie the disease
		Osteogenesis imperfecta type 3: a mutation causing deficient BMP1 proteolytic activity is responsible in a family with autosomal recessive disease
		Kawasaki disease: FCGR2A is a susceptibility locus
		Enchondromatosis (Ollier disease) and Maffucci syndrome: somatic mosaic IDH1 and IDH2 mutations are associated
	Research in Action
		Fundamental Research
			Rubinstein-Taybi syndrome: histone acetylation defects, mainly involving H2B and H2A, identified in lymphoblastoid cell lines from patients
			Rett syndrome: the two MeCP2 splice variants can substitute for each other and fulfill the basic functions of MeCP2 in the mouse brain
			Athabaskan brainstem dysgenesis and Bosley-Salih-Alorainy syndromes: severe cardiovascular malformations in a mouse model (Hoxa1 null mice)
			Aneuploid syndromes: induced pluripotent stem cells from patients can model early embryogenesis
			Fragile X-associated tremor/ataxia syndrome: activation of gypsy retrotransposon can modulate CGG repeats-mediated neurodegeneration in a drosophila model
			Proximal spinal muscular atrophy: severe neuromuscular denervation of clinically relevant muscles, amendable by trichostatin A treatment, in a mouse model
			Huntington disease: IRE1 plays an essential role in endoplasmic reticulum stress-mediated aggregation of mutant huntingtin via the inhibition of autophagy flux
			Neurofibromatosis type 1: ANRIL is a modifier gene, which influences the number of plexiform neurofibromas
			Retinitis pigmentosa: C1q enhances cone photoreceptor survival in a mouse model of autosomal recessive disease
		Clinical Research
			Graft-versus-host disease: low-dose interleukin-2 can reverse chronic disease
			Hereditary nonpolyposis colon cancer: CAPP2 long-term results show that aspirin is an effective chemopreventive agent for colorectal cancer
			Advanced neuroendocrine tumours associated with carcinoid syndrome: positive effect of everolimus plus octreotide long-acting repeatable
			Renal cell carcinoma: superiority of axitinib over sorafenib as second-line therapy in patients with advanced disease
			Glycogen debranching enzyme deficiency: successful experimental treatment of severe cardiomyopathy in an infant
			Juvenile idiopathic arthritis: factors associated with treatment response to etanercept
			Huntington disease: report of potential endpoints for clinical trials in premanifest and early disease (24 month results of TRACK-HD study)
			Meningioma: a meta-analysis of individual paediatric patient data
			Myotonic muscular dystrophy types 1 and 2: patients are at increased risk of malignancy
			Facioscapulohumeral dystrophy: patients with a phenotype consistent with the disease display genetic and epigenetic heterogeneity
			Sirenomelia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research
		Gene Therapy
			Menkes disease: ATP7A gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a mouse model
			Huntington disease: progresses towards reduction of huntingtin expression in vitro and in animal models
			Neuroblastoma: favourable effects of selective therapeutic targeting of the anaplastic lymphoma kinase with liposomal siRNA in mice
			Steinert myotonic dystrophy: stabilisation of expanded CTG repeats in DMPK gene by antisense oligonucleotides
		Therapeutic Approaches
			Haemophilia: a zymogen-like factor Xa variant corrects the coagulation defect in mouse models
		Diagnostic Approaches
			Osteogenesis imperfecta: European Molecular Genetics Quality Network (EMQN) guidance for laboratory diagnosis
			Huntington disease: discrepancies in reporting the CAG repeat lengths reinforce the need to participate in external quality assessment schemes
			Alport syndrome: advances in diagnosis using next-generation sequencing
	Patient Management and Therapy
		Erdheim-Chester disease: clinical, radiological, prognostic, and therapeutic features
		Sickle cell anaemia: a comprehensive review of the literature on children management
		Spina bifida: providing a primary care medical home for children and youth
		Three new Clinical Utility Gene Cards available
	Orphan Drugs
		Political and Scientific News
			An assessment of Belgium’s orphan drug reimbursement decision process
	Grants
		Two separate funding announcements for Niemann-Pick disease research
	Partnersearch, Job Opportunities
		Career opportunity: Inaugural Director of the Center for Orphan Disease Research and Therapy at University of Pennsylvania
	Courses & Educational Initiatives
		Tenth European Course on the Evaluation of Medicinal Products in Children
		The European School of Genetic Medicine celebrates its 25th anniversary with special courses
		OroDysmorphology Course
		Goldrain Courses in Clinical Cytogenetics and Prenatal Genetic Diagnosis
		Master of Science in Haemoglobinopathy
		Orphan Academy 2012 Programme
		EuroGentest Quality Management and Accreditation/Certification of Genetic Testing Workshops
	What's on Where?
		Second ASID Congress of the African Society for Immunodeficiencies
		European Organisation for Research and Treatment of Cancer (EORTC) 50th Anniversary Conference
		Genomic Disorders 2012
		The Fourth BHD Symposium for Birt-Hogg-Dubé syndrome
		13th International Conference on Neuronal Ceroid Lipofuscinosis and 1st Worldwide Meeting of Batten Disease Int'l Alliance
		International Symposium on Hepatic Glycogen Storage Diseases
		Fourth International Meeting on Primary Central Hypoventilation Syndromes
		Myomatrix 2012 Conference
		8th International Congress on Autoimmunity
		CILIA 2012 - Cilia in Development and Disease Date: 16-18 May 2012
		Sixth International Alkaline Phosphatases Symposium
		6th European Conference on Rare Diseases & Orphan Products
		5th International Conference on Ectodermal Dysplasia (ED2012)
		10th International Primary Hyperoxaluria Workshop
		European Human Genetics Conference 2012
		European Working Group on Gaucher Disease Meeting
		World Federation of Hemophilia World Congress
		Retina International World Congress
		7th European Elastin Meeting
		First International Symposium on the Ehlers-Danlos Syndrome
		3rd Pan-European Conference on Haemglobinopathies and Rare Anaemias: Towards the Future
		10th Asia-Pacific Conference on Human Genetics
		8th International Prader-Willi Syndrome Conference
	Media, Press & Publications
		Children's Upper and Lower Limb Orthopaedic Disorders
		Diagnosis and Management of Adult Congenital Heart Disease
		Did Elizabeth Barrett Browning have a rare disease?
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