Fwd: Orphanews Europe 28 March 2012

[José Antonio Navarro]

Último boletín de OrphaNews...¡quizá encuentren algo de su interés!

Saludos.

---------- Forwarded message ----------
From: <orphanew...@orpha.net>
Date: 2012/3/28
Subject: Orphanews Europe 28 March 2012
To: jana...@yahoo.es

OrphaNews Europe : 28 March 2012
	Editorial
		EUCERD Joint Action kick-off meeting reviews the work plan designed to help implement the Council Recommendation on an action in the field of rare diseases
	EU Policy News
		New European Commission proposal would give patients faster access to medicines
	National & International Policy Developments
		Other European news
			Czech Republic lays groundwork for the Czech Association for Rare Diseases
			Born Healthy Needs Assessment toolkit for congenital disorders now available
			British Paediatric Surveillance Unit issues 25th annual report
			EPPOSI releases 2012 work plan in the field of rare diseases
		Other International News
			New funding scheme kick-starts early-stage applied rare disease research
			Two new rare disease studies for Alport syndrome and for giant axonal neuropathy seek paediatric trial participants
			Vietnam to expand prenatal and newborn screening networks
			Guidance Documents and Recommendations
				Clinical practice guidelines for Wilson disease now available from the European Association for the Study of the Liver (EASL)
			Bioinformatics, Registries and Data Management
				Diagnosis and prevalence rates of rare chromosome anomalies from the European Surveillance of Congenital Anomalies
				Pilot programme launched to establish Global Rare Diseases Patient Registry and Data Repository
				How to coordinate the process from gene variant discovery to the production of guidelines that serve medicine?
				A framework for evaluating small area variations in care infrastructure for rare disease diagnostics and health outcomes
			Screening and Testing
				A framework for identifying rare variants in complex diseases and determining an optimal study design
	Ethical, Legal & Social Issues
		Paediatric patients faring well under Orphan Drug Act in the USA
		Measures similar to orphan drug incentives sought to combat stagnating antibiotic research and develop treatments for resistant strains
	EU Project Follow-up
		World’s largest study on relapse of childhood cancer acute lymphoblastic leukaemia
	Orphanet News
		2011 annual activity report showcases the first achievements of the Orphanet Europe Joint Action
		New Orphanet Journal of Rare Diseases publications
	New Syndromes
		Atonal homolog 7 mutations induce multiple eye developmental defects
		Atypical cold urticaria, immunodeficiency and autoimmunity caused by a temperature-sensitive signaling defect in B cells
		Early-onset gigantism associated with mammosomatotroph hyperplasia
	New Genes
		Hypothyroidism with borderline abnormal thyroid hormone levels due to a THRA mutation
		Fibrochondrogenesis: mutations in COL11A2 induce dominant or recessive forms
		A novel etiology of polycystic and dysplastic kidneys due to mutations of BICC1 domains involved in the Wnt pathway inhibition
		Neural tube defects: novel mutations affecting planar cell polarity identified in two genes
		Mutations in STRA6 involved in reduced vitamin A uptake activity and isolated colobomatous microanophtalmia
		PIK3R5 and neurological disorders: first link found in a family with ataxia and oculomotor apraxia
		Craniorachischisis is a neural tube defect likely due to mutations in planar cell polarity genes
		Idiopathic epilepsy: nonion channel gene mutations found in some simple and complex febrile seizures and temporal lobe epilepsy
		Dysspondyloenchondromatosis: mutations in one patient suggest a link with type II collagen disorder
		Pulmonary arterial hypertension: Smad signalling pathway seems to have little involvement
	Research in Action
		Fundamental Research
			Mice with MYH9 mutations mimic hematologic, eye and kidney defects of human MYH9-related disease
			Cherubism: mutations in the 3BP2 gene disrupt its Tankirase-mediated regulation and cause the disease
			X-linked myotubular myopathy: a murine MTM1 model more workable than MTM1 KO mice
			Niemann-Pick type C disease : a novel mouse model best suited to the milder, late-onset forms study
		Clinical Research
			Pulmonary arterial hypertension: a drug for adult tested in children
			An Austrian neonatal screening of lysosomal storage disorders showed higher than expected birth incidence
			Diagnosis of congenital disorders of glycosylation: next generation sequencing more efficient than gene-by-gene approach
			Mutations in cardiac depolarizing channels in infancy onset of Brugada syndrome
			Kawasaki disease: lower occurrence of coronary artery lesions with initial treatment including ulinastatin, a urinary trypsine inhibitor
			Adjuvant capecitabine and oxaliplatin improved survival of gastric cancer patients after D2 gastrectomy
			Haemophilia B: recombinant factor IX-Fc fusion protein may provide prolonged hemostatic protection not inducing inhibitory secretion
			Refractory Kawasaki disease: immunoglobulin therapy is safe and efficient when combined with corticosteroids
			A national study reveals 6% of vertebral fractures cases in children with rheumatic disorders 12 months after glucocorticoid initiation
			Autoimmune disorders are associated with a high risk of pulmonary embolism in the first year after hospital admission
			Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1): most patients can adapt to their home and school environment
			5-year survival in women with invasive epithelial ovarian cancer: BRCA2 mutations carriers have the best prognosis
			Systemic sclerosis: IL12RB2 and IRAK1 genes involved, suggesting an influence of interleukin 12 signalling pathway and a sex chromosome
		Stem Cells
			Stargardt macular degeneration: visual acuity improved after embryonic stem cell therapy
			Pluripotent stem cells vs embryonic stem cells in research and therapeutic
		Gene Therapy
			γ-Sarcoglycanopathy: AAV vector allows γ-sarcoglycan replacement
			X-linked retinitis pigmentosa: photoreceptors preserved after subretinal injections of the RPGR gene in dogs
			Dominant retinitis pigmentosa: efficiency of shRNA therapy in a murine model
			Amyloidosis AL: siRNAs against amyloidogenic production
			Haemophilia A: FIX variant bypasses FVIII and rescues coagulation in mice
			Neuronal ceroid lipofuscinosis: efficiency of gene replacement therapy can be optimise using molecular imaging methods
			HNF1α inhibits tumorigenicity in mice with hepatocellular carcinoma: an encouragement to cancer differentiation therapy
			Ataxia-telangiectasia: screening and functional characterization of ATM mutations in order to develop therapies
			Human artificial chromosome : a tool for the study of gene functions and the correction of gene deficiencies
		Therapeutic Approaches
			Retinoblastoma: the therapeutic promises of epigenetics
			Achondroplasia: toward treatments promoting bone growth inhibiting constitutive FGFR3 phosphorylation?
		Diagnostic Approaches
			Pitt-Hopkins syndrome: a comprehensive diagnostic strategy based on TCF4 coding regions study
			Hairy cell leukaemia: Detection of the BRAF-V600E mutation improved diagnosis and differentiation with respect to HCL-like disorders
	Patient Management and Therapy
		Three new Clinical Utility Gene Cards available
		von Hippel-Lindau disease: an annual audiometry recommended for endolymphatic sac tumour surveillance
		Gastroenteropancreatic neuroendocrine tumour: multidisciplinary guidelines for disease management
		Thalassemia in the time of gene therapy
	Orphan Drugs
		Regulatory News
			Rejection of advanced therapy product Glybera calls into question the role of the Committee on Advanced Therapies in the European Medicines Agency
			Helping move advanced therapy medicinal products down the development pipeline
		Political and Scientific News
			Orphan medicine costs in Europe expected to plateau at approximately 4.6% of total pharmaceutical expenditure by 2016
	Partnersearch, Job Opportunities
		EUCERD Joint Action: working on bringing rare disease policy into action
	Courses & Educational Initiatives
		The European School of Genetic Medicine celebrates its 25th anniversary with special courses
		OroDysmorphology Course
		Epidermolysis Bullosa – An Introduction and Advanced Management courses
		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?
		International Symposium on Hepatic Glycogen Storage Diseases
		Fourth International Meeting on Primary Central Hypoventilation Syndromes
		Myomatrix 2012 Conference
		World Pulmonary Hypertension Day-Scientific Symposium
		8th International Congress on Autoimmunity
		CILIA 2012 - Cilia in Development and Disease
		Sixth International Alkaline Phosphatases Symposium
		12th International Conference on Myasthenia Gravis and Related Disorders
		6th European Conference on Rare Diseases & Orphan Products
		5th International Conference on Ectodermal Dysplasia (ED2012)
		1st European Conference on Aniridia
		10th International Primary Hyperoxaluria Workshop
		European Human Genetics Conference 2012
		11th Conference of the International Association of Bioethics: Bioethics and the Future, and the Future of Bioethics
		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
		15th biannual Meeting fo the European Society for Immunodeficiencies
		Mechanisms of Intellectual Disability: From Genes to Treatment
		3rd Pan-European Conference on Haemglobinopathies and Rare Anaemias: Towards the Future
		The Second Joint International Symposium on Neuroacanthocytosis and Neurodegeneration with Brain Iron Accumulation
		International Ataxia Research Conference
		10th Asia-Pacific Conference on Human Genetics
		8th International Prader-Willi Syndrome Conference
	Media, Press & Publications
		A renowned guide to the medical management of genetic syndromes has been revised and expanded
		An overview of cryoglobulinemias
		Iron metabolism and iron-overload diseases
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