Fwd: Orphanews Europe 28 February 2013

[José Antonio Navarro]

En el día dedicado a las enfermedades raras, el boletín de Orphanews (solo disponible en inglés).

Saludos a todos en este día tan especial.

---------- Forwarded message ----------
From: <orphanew...@orpha.net>
Date: 2013/2/28
Subject: Orphanews Europe 28 February 2013
To: jana...@yahoo.es

OrphaNews Europe : 28 February 2013
	Editorial
		The rare disease community around the globe join hands today for a better future
	Spotlight on...
		Save the date: The first International Rare Disease Research Consortium Conference in Dublin
	EU Policy News
		EMA
			European Medicines Agency reports on small and medium sized enterprise related activities
		Other International News
			Bioinformatics, Registries and Data Management
				Characteristics of Niemann-Pick disease type C validated using registry
			Screening and Testing
				Rethinking responsibilities of clinicians in the new age of comprehensive testing
				Do parents want to know the Cystic Fibrosis carrier status of their child?
				Countrywide study on providing Down syndrome screening for pregnant women in France
	Ethical, Legal & Social Issues
		Survey analysing support provided to rare disease families in Australia
		Website provides support to those undergoing predictive testing for Huntington Disease
	Orphanet News
		Orphanet has just released its mobile application!
		Now available: comprehensive and updated list of orphan medicinal products
	New Syndromes
		A new autoimmune disorder associating antibodies against DPPX, encephalitis and prodromal diarrhea
		Chronic haemolysis and relapsing peripheral demyelinating neuropathy in five infants with CD59 deficiency
	New Genes
		Primary ciliary dyskinesia: CCDC114 mutations impair respiratory function and sometimes laterality, but does not appear to greatly affect fertility
		Distal arthrogryposis type 5: ECEL1 mutations involved in an autosomal recessive form without ophtalmoplegia
		Cowden syndrome: germline gain-of-function PIK3CA and AKT1 mutations found in 11% of patient without detected PTEN/SDHx/KLLN mutation/alteration
		Opsismodysplasia: INPPL1 mutations found in cases with or without renal phosphate wasting
		Congenital stationary night blindness: LRIT3 mutations involved in an autosomal recessive complete form
		Isolated Klippel-Feil syndrome: homozygous truncating MEOX1 mutations associated with an autosomal recessive form
		Hypotrichosis simplex: SNRPE mutations cause an autosomal dominant form
		Familial hypocalciuric hypercalcemia type 3: three different AP2S1 mutations involving solely the Arg15 residue disturb extracellular calcium homeostasis
		Vici syndrome: EPG5 mutations suggest a role of other genes involved in autophagy
		Primary torsion dystonia: GNAL mutations induce a variable, predominantly cervical, phenotype
		Acute megacaryoblastic leukemia: chromosome 16 inversion encoding CBFA2T3-GLIS2 fusion protein defines a pediatric subgroup with poor outcome
		Neuroblastoma: ARID1A and ARID1B mutations associated with early therapy failure and decreased survival
		Atypical chronic myeloid leukemia: patients with SETBP1 mutations have higher white blood cell counts and worse prognosis compared to other cases
		Tetralogy of Fallot: a GJA5 mutation found in two patients, one with the classic form, the other with pulmonary atresia
		Postaxial polydactyly type A: a ZNF141 mutation transmitted in an autosomal recessive manner in a consanguineous family
		Congenital communicating hydrocephalus: MPDZ mutations identified in severe cases
		Childhood apraxia of speech: a predisposing 12p13.33 microdeletion suggesting a role of ELKS/ERC1
		Axonal peripheral neuropathies: a possible role of HARS mutations
	Research in Action
		Clinical Research
			Tuberous sclerosis: everolimus is efficient against growth of subependymal giant cell astrocytomas
			Familial hypertrophic cardiomyopathy: early screening of child relatives is relevant as well as follow-up of cases at risk for late form
			Homozygous familial hypercholesterolemia: given in addition to lipid-lowering therapy, lomitapide reduces LDL-cholesterol and ApoB levels
			Adult hepatocellular carcinoma: tivantinib can be second-line treatment for advance cases, particularly those with MET-high tumors
			Systemic-onset juvenile idiopathic arthritis: tocilizumab and canakinumab efficient on active forms but with safety profiles difficult to assess
		Stem Cells
			Proximal spinal muscular atrophy: improved phenotype and lifespan in mice treated with motor neurons derived from genetically corrected patients iPSCs
			Amyotrophic lateral sclerosis: transplantation of multipotent NSCs into the spinal cords of a mouse model attenuates disease symptomatology and course
		Gene Therapy
			Canavan disease: long-term follow-up after gene therapy shows decreased seizure frequency and clinical stabilization, and a need for very early treatment
			Leber hereditary optic neuropathy: intravitreal injection of AAV-NDI1 significantly reduced retinal ganglion cells death and optic nerve atrophy in mouse
		Therapeutic Approaches
			Charcot-Marie-Tooth disease type 1B: improved phenotype in mice treated with curcumin dissolved in sesame oil or formulated with phosphatidylcholine
			Idiopathic and/or familial pulmonary arterial hypertension: preventive and curative effect of chemical chaperones attenuating endoplasmic reticulum stress
			Glioblastoma : a bispecific antibody targeting tumor cells expressing EGFRvIII without the risk of cross-reactivity with normal tissues in vitro and in mice
			Duchenne muscular dystrophy: a recombinant Wnt7a protein stimulates regeneration of dystrophic muscles in a mouse model
			Duchenne muscular dystrophy: dantrolene enhances the efficiency of therapeutic exon skipping and improves muscle strength in mice
		Diagnostic Approaches
			Autosomal recessive nonsyndromic sensorineural deafness: a new approach could lead to a genetic diagnosis in 50% of cases
	Patient Management and Therapy
		Inherited ichthyoses/generalized Mendelian disorders of cornification: a practical genetics review
		Acute angioedema: recognition and management in the emergency department
		Familial lipoprotein lipase deficiency: a review on gene therapy with alipogene tiparvovec
		Hyperoxalurias: an update on current therapy and future strategies
		Mesothelioma: focus on the systemic management of patients who are not considered suitable for surgical approaches and on new first or second-line therapies
		Syndromic diarrhea: a review
		Cardiac channelopathies: from mechanisms to management
		Mitochondrial DNA diseases: an overview of cardiac involvement
		Glial tumors: molecular diagnostics and their implications in management of infantile forms
		Polycythemia vera: maintaining a haematocrit target of less than 45 significantly reduces rate of thrombotic complications
		Retinopathy of prematurity: current, new, and potential therapies
		Malignant atrophic papulosis: a review
	Orphan Drugs
		Inherited ichthyoses/generalized Mendelian disorders of cornification: a practical genetics review
		Regulatory News
			Retinal implant for patients suffering from retinitis pigmentosa: approved by FDA
	Partnersearch, Job Opportunities
		Research Associate/ Postdoctoral Scientist: to lead on impact activities for EU network
	What's on Where?
		3rd Annual World Orphan Drug Congress
		First GENCODYS International Conference: Integrative Networks in Intellectual Disabilities
		International Rare Diseases Research Consortium Conference 2013
		World Federation of Hemophilia 13th International
		7th Alstrom Syndrome International Family Conference and Scientific Symposium
		Autoinflammation 2013: 7th International Congress of the International Society of Systemic Auto-Inflammatory Diseases
		4th International DSD (Disorders of Sex Development) Symposium
		12 th European Symposium on Congenital Anomalies
		10th HHT Scientific Conference
		World Orphan Drug Congress Asia
		6th International Conference on Children's Bone Health
		9th European Cytogenetics Conference
		8th International Prader-Willi Syndrome Conference
		2nd Conference of 'EB-CLINET - Clinical Network of EB Centres and Experts'
		Mitochondrial Disease: Translating biology into new treatments
		Thalassemia International Federation World Congress
		First International Primary Immunodeficiencies Congress (IPIC)
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