Fwd: Orphanews Europe 21 November 2012

[José Antonio Navarro]

Hola, os remito el boletín distribuido hoy de OrphaNews.

Saludos.

---------- Forwarded message ----------
From: <orphanew...@orpha.net>
Date: 2012/11/21
Subject: Orphanews Europe 21 November 2012
To: jana...@yahoo.es

OrphaNews Europe : 21 November 2012
	Editorial
		Spain’s government declares 2013 the Spanish Year of Rare Diseases
	Spotlight on...
		OrphaNews Europe to get a new editor in January
	National & International Policy Developments
		Assessing health needs for neural tube defects in Argentina using the Born Healthy toolkit
		New UK report asserts that rare diseases are frequently neglected or misdiagnosed and that treatment and services are not evenly available
		Other European news
			E-patients, e-parents, e-doctors: web opportunities and risks workshop helps Italian stakeholders use Internet tools for sharing rare disease information
			Perception of rare diseases by Primary Care Physicians in Spain
		Other International News
			Guidance Documents and Recommendations
				Family management guide for congenital muscular dystrophy available in Spanish; translations underway in a dozen other languages
			Bioinformatics, Registries and Data Management
				Human Mutation focuses on neurogenetics databases
				Controversy in genetic testing: Privately owned genetic databases may hinder diagnosis
			Screening and Testing
				New website helps healthcare professionals identify early signs of paediatric muscle weakness and neuromuscular disease
	Ethical, Legal & Social Issues
		How to reduce bureaucracy while preserving the necessary ethics processes in rare paediatric disease studies?
	EU Project Follow-up
		CliniBook provides a reference for state-of-the-art gene transfer technology
	Orphanet News
		New Texts
			Three new rare disease emergency guidelines available in English
	New Syndromes
		An autosomal recessive congenital cerebellar ataxia associated with mutations in the metabotropic glutamate receptor mGluR1
		Early-onset Lafora body disease associated with an excessive sequestration of laforin and malin in nucleus
		Susceptibility to EV-HPV infections induced by T cell defects
		Paraganglioma with polycythemia in two women: may be a new syndrome due to somatic HIF2 mutations
		Lateral tibial and distal fibular bowing with short stature in two siblings
	New Genes
		Amelogenesis imperfecta: C4orf26 mutations are a major cause and provide new insights into biomineralization
		Walker-Warburg syndrome: GTDC2 mutations impair α-dystroglycan glycosylation in zebrafish
		Torg-Winchester syndrome: MT1-MMP mutations result in an osteolysis related to but distinct from the condition induced by MMP2 mutations
		Achromatopsia: a PDE6H mutation identified in an incomplete form with preserved short-wavelength-sensitive cone function
		Bilateral polymicrogyria: RTTN mutations link primary cilia function to organization of the human cerebral cortex
		Familial multiple meningioma: a role for the SUFU gene previously associated with childhood medulloblastoma predisposition
		Autosomal dominant spastic ataxia: a VAMP1 mutation suggests involvement of this gene in ataxia and spastic paraplegia, at least in Newfoundland families
		Catel-Manzke syndrome: IMPAD1 mutations identified in a like-form including additional features
		Brown-Vialetto-van Laere syndrome: SLC52A2 mutation found in a delayed, slowly progressive form
		Autosomal recessive nonsyndromic sensorineural deafness type DFNB: TSPEAR mutations identified in a new deafness locus
		Isolated punctate palmoplantar keratoderma: identification of a likely causal mutation in COL14A1
		Isolated succinate-CoQ reductase deficiency: first example of SDHB involvement into a primary mitochondrial disease
		Autosomal dominant hereditary woolly hair with hypotrichosis: first KRT71 mutation involved in a human familial hair disorder
		Usher syndrome: an ABHD12 mutation found in a family with type 3-like form that can be confused with PHARC
		Porokeratotic eccrine ostial and dermal duct nevus may be caused by mosaic GJB2 mutations coding for the gap junction protein connexin26
	Research in Action
		Rare disease research revealing Nature’s secrets
		Fundamental Research
			Distal renal tubular acidosis: Atp6v0a4 knockout mouse recapitulates the loss of H+-ATPase function seen in human disease
			Duchenne muscular dystrophy: E2F1 deficiency improves muscle performance through increased oxidative metabolism in mouse model
			Fetal valproate syndrome: acid valproic induces transcriptional deregulation and disturbs neural differentiation in human embryonic stem cells
			Muscle filaminopathy: a novel zebrafish model resulting from a nonsense mutation in one of the two zebrafish filamin C homologues
		Clinical Research
			Thalassemia: iron chelator deferasirox significantly reduces iron overload in nontransfusion-dependent patients
			Acute myeloid leukemia: gemtuzumab ozogamicin as postconsolidation therapy does not prevent relapse in children
			Anaplastic thyroid carcinoma: pazopanib monotherapy demonstrates minimal activity in cases with advanced disease
			Acute lymphoblastic leukemia: complete remission with imatinib associated with intensive chemotherapy in a Philadelphia-chromosome-positive form
			Glycogen storage disease due to acid maltase deficiency: the emerging phenotype of long-term survivors with infantile form due to enzyme replacement therapy
			Amyotrophic lateral sclerosis: evidence for an oligogenic aetiology in familial and sporadic forms
			Ataxia-telangiectasia: oral betamethasone could be a promising therapy to relieve ataxia symptoms according to a controlled study
		Stem Cells
			Congenital tracheal stenosis: airway still functional 2 years after a stem-cell-based tracheal replacement in a patient
			Proximal spinal muscular atrophy: functional and stable integration of amniotic fluid stem cells into the skeletal muscle of a mouse model
		Gene Therapy
			Stargardt disease: persistent ABCA4 transgene expression with functional and structural improvement in mice using DNA nanoparticles
			Kennedy disease: early silencing of CELF2 through miRNA overexpression ameliorates the motor impairment of mice model
		Therapeutic Approaches
			Frontotemporal dementia with motor neuron disease: autophagy activators rescue and/or slow down the pathogenesis of mouse model
			Huntington disease: single-stranded siRNAs inhibit mutant HTT expression in patient-derived cells and model mice
			Amyotrophic lateral sclerosis: modulating inflammatory monocytes profile slows disease progression and attenuates neuronal damage in a mouse model
			Achondroplasia and thanatophoric dysplasia: efficiency of PTH treatment against delayed skeletal development and postnatal lethality in mouse
		Diagnostic Approaches
			Osteogenesis imperfecta: determination of pigment-epithelium derived factor (PEDF) serum levels helps to diagnose the type VI
	Patient Management and Therapy
		Congenital heart malformations: an increased risk of neurodevelopmental disorders necessitating a pediatric surveillance
		Transthyretin cardiac amyloidosis: an underappreciated contributor to heart failure in elderly patients
		Hodgkin lymphoma in adults: a management review with a focus on late effects of treatment
		A review of non-Hodgkin lymphoma
		Melioidosis: recent developments in pathogenesis, diagnostics, and treatment
		Complex I deficiency: clinical features, biochemistry and molecular genetics
	Orphan Drugs
		Regulatory News
			Two treatments for chronic myelogenous leukaemia approved in the USA
			13 positive opinions recommending orphan designation at the November COMP meeting
		Political and Scientific News
			A comparison of Health Technology Assessment processes for orphan drugs in five different countries reveals significant variability
			Do the incentives to develop orphan drugs have undesirable side-effects?
			A review of the first decade of Europe’s Orphan Drug Regulation identifies areas for improvement
	Grants
		Rare Disease Science Challenge: Be HEARD offers a unique scheme to boost rare disease research by awarding donated software, reagents and consulting services
	Courses & Educational Initiatives
		European Cytogeneticists Association Courses
		Online Master of Science in Haemoglobinopathy
		The European School of Haematology distance learning tools
		Goldrain Courses in Clinical Cytogenetics and Prenatal Genetic Diagnosis
		Orphan Academy 2012 Programme
		EuroGentest Quality Management and Accreditation/Certification of Genetic Testing Workshops
	What's on Where?
		3rd Annual World Orphan Drug Congress
		Translating Genomics Conference
		Epposi Conference on an Optimal European Chronic Care Model: Towards Implementation and Benchmarking
		10th Asia-Pacific Conference on Human Genetics
		Symposium ATP1A3 in Disease: From Gene Mutations to New Treatments
		Epposi Conference on Building a Framework for Societal Benefits Approach to Health Technology Assessment
		5th International Meeting on Pulmonary Rare Diseases and Orphan Drugs
		3rd Annual World Orphan Drug Congress
		First GENCODYS International Conference: Integrative Networks in Intellectual Disabilities
		World Federation of Hemophilia 13th International Musculoskeletal Congress 2013
		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
		World Orphan Drug Congress Asia
		The 9th European Cytogenetics Conference
		8th International Prader-Willi Syndrome Conference
		First International Primary Immunodeficiencies Congress (IPIC)
	Media, Press & Publications
		A balanced assessment of consanguinity around the world: Consanguinity in Context
		Manual of Pediatric Neurology
		ISCN 2013: An International System for Human Cytogenetic Nomenclature – updated and extended
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