Fwd: Orphanews Europe 23 May 2012

[José Antonio Navarro]

Hola.

Os remito el último boletín OrphanNews, que puede contener alguna cosa de vuestro interés. Recordar que este boletín solamente se distribuye en inglés.

Saludos a todos.

PD. A los amigos de Hispataxia indicarles que hay trabajos en relación con la ataxia de Friedreich.

---------- Forwarded message ----------
From: <orphanew...@orpha.net>
Date: 2012/5/23
Subject: Orphanews Europe 23 May 2012
To: jana...@yahoo.es

OrphaNews Europe : 23 May 2012
	Editorial
		National rare disease plans: Slovenia adopts a strategy, while the Netherlands move forward its development process, and a UK proposal opens for comments
	Spotlight on...
		Treat-NMD: a model of excellence
		Interview
			Building sustainability into a project plan for post-funding continuity
	EU Policy News
		The European Commission’s new Health in Europe: Information and Data Interface (HEIDI) tool includes a section for rare diseases
		EMA
			Reflection paper on the classification of advanced therapies open for public consultation
	National & International Policy Developments
		Rare diseases added to China’s charity aid system
		Ireland revamps its policy regarding newborn screening card storage
		Other European news
			CIBERER co-publishes guide to help rare disease patient organisations navigate media relations
			A new patient report weighs the benefits and risks of new medicines for serious and rare diseases
			Born Healthy Needs Assessment toolkit for congenital disorders adds six new disorders
		Other International News
			Very first Biochemistry and Molecular Genetics meeting held in Algeria
			Rare diseases in Colombia’s indigenous ethnic populations: ethical and economic considerations
			Second annual World PI Week for primary immunodeficiencies focuses on access to treatment
			Guidance Documents and Recommendations
				Measures delineated for improving evaluation and access to rare lung disease therapies
				Amyotrophic lateral sclerosis: a revised version of the guidelines on the clinical management of the European Federation of neurological societies
			Bioinformatics, Registries and Data Management
				UK biobank opens its data to researchers
				Is the time ripe for a Human Phenotype Project?
				Implementing an integrated system for the analysis and prediction of drug-disease associations for rare diseases with unidentified molecular bases
	Ethical, Legal & Social Issues
		Genetic testing legislation updated in the Czech Republic reflecting the Oviedo Convention Additional Protocol on genetic testing
		Patient-driven research: a growing phenomenon in the field of rare diseases
	New Syndromes
		Homozygous AFG3L2 mutations found in a spastic ataxia-neuropathy syndrome expanding the spectrum of m-AAA proteases associated neuropathies
		An inherited disorder with splenomegaly, cytopenias, and vision loss
		Three cases with terminal 20p deletion presenting with a similar phenotype
	New Genes
		Normosmic congenital hypogonadotropic hypogonadism: inactivating mutation in KISS1 induces failure of pubertal progression
		Seckel and Jawad syndromes: CtIP mutations are at cause, hampering ATR signalling and revealing a new form of genetic mechanism in the former
		Familial isolated dilated cardiomyopathy: DOLK mutations reduce O-mannosylation of alpha-dystroglycan via abnormal N-glycosylation
		Lissencephaly: de novo missense mutations in DYNC1H1 cause severe intellectual disability associated with variable neuronal migration defects
		Fanconi anemias: a novel group defined by XRCC2 mutations
		Coenzyme Q10 deficiency can be associated with haploinsufficiency of COQ4
		Joubert syndrome and related disorders: mutations resulting in ciliary anomalies found in CEP41 and TMEM138
		Autosomal recessive congenital ichthyosis: PNPLA1 mutations found in dogs and humans involve the epidermal lipid barrier formation
		Hereditary diffuse leukoencephalopathy with spheroids: CSF1R mutations establish the disease as a member of microgliopathies
		Perlman syndrome and nephroblastoma susceptibility: mutations in DIS3L2 identified
		Bilateral striopallidodentate calcinosis: mutations in SLC20A2 identify altered phosphate homeostasis as a primary pathophysiological mechanism
		CANDLE syndrome is caused by mutations in proteasome subunit PSMB8 suggesting interferon may be a therapeutic target
		Congenital short bowel: loss-of-function mutations of CLMP likely interfere with tight-junction formation and disrupt intestinal development
		Rare primary hyperaldosteronism: mutations in the potassium channel KCNJ5 induce various phenotypes and clinical outcomes
		Autosomal recessive epidermolysis bullosa simplex: loss of BPAG1-e expression impairs hemidesmosome integrity in basal keratinocytes
		46,XY disorder of sex development: WWOX involved in gonad development
		Idiopathic and/or familial pulmonary arterial hypertension is associated with BMPR1B mutations
		Persistent pulmonary hypertension of the newborn: mutations found in corticotrophin-releasing hormone receptor 1 (CRHR1)
		Coats disease like with cerebroretinal microangiopathy, calcifications and cysts: mutations found in CTC1 involved in DNA maintenance
	Research in Action
		Fundamental Research
			Primary ciliary dyskinesia: IV mouse model recreates the physiological phenotype of immotile respiratory cilia through a Dnahc11 mutation
			Pemphigus vulgaris: an adult passive transfer mouse model to study the involvement of desmoglein 3 antibody-mediated signaling in skin
			Epidermolysis bullosa simplex, Ogna type: key features in a mouse model of impaired hemidesmosome formation due to proteolytic cleavage of plectin 1a
			Central diabetes insipidus: specific role for liver X receptor β in controlling water balance in both the brain and kidney demonstrated in mice
		Clinical Research
			Graft versus host disease: UVB irradiation post transplant is safe and improves outcome in allogeneic hematopoietic cells recipients
			Epilepsy with myoclonic-astatic seizures: potential therapeutic effect of rufinamide on seizures but with some loss of efficacy in the long-term
			Facioscapulohumeral dystrophy: healthy carriers and affected compound heterozygotes question genetic counseling and prenatal diagnosis
			Myelofibrosis with myeloid metaplasia: continuous oral ruxolitinib therapy can reduce splenomegaly and improve quality of life and survival of patients
			TRAPS syndrome: etanercept reduces symptoms and serum levels of inflammatory markers, but long-term adherence to etanercept is poor
			Friedreich ataxia: erythropoietin has no significant hematological, clinical, or biochemical effects
			Poikiloderma: neutropenia must be searched in poikiloderma patients in order to avoid diagnostic errors
			Sickle cell anemia: blood rheodynamics proposed as a biophysical indicator of vaso-occlusive risk
			Amyloidosis: a reliable typing through proteomic analysis of subcutaneous adipose tissue
			Gastrointestinal stromal tumor: risk-stratification schemes might reduce risk of overtreatment for patients who can be cured by surgery alone
			Frontotemporal dementia with motor neuron disease: mental disorders observed in amyotrophic lateral sclerosis patients with C9orf72 mutation
			Children with global developmental delay or intellectual deficiency: an overview of the diagnostic yield of genetic and metabolic testing
		Stem Cells
			Sickle cell anemia: in situ genetic correction of the responsible mutation in human induced pluripotent stem cells using engineered zinc finger nucleases
			Krabbe disease: intravenous delivery of bone marrow-derived mesenchymal stromal cells diminishes neuropathology in a mouse model
			Proximal spinal muscular atrophy type 1: ectopic SMN expression in induced pluripotent stem cells restores motoneuron differentiation
		Therapeutic Approaches
			Huntington disease: intraventricular infusion of ganglioside GM1 induces phosphorylation of mutant huntingtin and restores normal motor function in mice
			Friedreich ataxia: delivering a TAT-frataxin fusion protein in mitochondrion increases lifespan and improves cardiac function in mouse
			Mucopolysaccharidosis type 6: intrathecal injection of recombinant human N-acetylgalactosamine-4-sulfatase reduces GAG accumulation in the dura of model cats
			Williams syndrome: reduction of NADPH-oxidase activity improves the cardiovascular phenotype in a mouse model
		Diagnostic Approaches
			Duchenne and Becker muscular dystrophy: a platform providing complete characterization of DMD transcripts and accurate molecular diagnosis
			Lynch syndrome: a cell-free assay to test the MMR activity in forms associated with variants of uncertain significance
	Patient Management and Therapy
		A review of autosomal recessive cerebellar ataxia
		Fabry disease: implementation of a prognostic index of severity
		Pediatric systemic lupus erythematosus: consensus treatment plans for induction therapy of newly diagnosed proliferative lupus nephritis
	Orphan Drugs
		Regulatory News
			Eight positive opinions recommending orphan designation adopted at the April COMP meeting
			Three recent rare disease drug approvals from the FDA
		Political and Scientific News
			Guidelines for orphan drug development in academia and start-ups
			Ethical guidelines for the fair distribution of resources for rare diseases
	Partnersearch, Job Opportunities
		Group leader positions available at the French Imagine Institute for rare genetic diseases
		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
		Summer School for Clinical Practice Guidelines on Rare Diseases
		Epidermolysis Bullosa – An Introduction and Advanced Management courses
		Goldrain Courses in Clinical Cytogenetics and Prenatal Genetic Diagnosis
		Master of Science in Haemoglobinopathy
		The European School of Haematology distance learning tools
		Orphan Academy 2012 Programme
		EuroGentest Quality Management and Accreditation/Certification of Genetic Testing Workshops
	What's on Where?
		12th International Conference on Myasthenia Gravis and Related Disorders
		6th European Conference on Rare Diseases & Orphan Products
		Symposium on Neurocognitive Developmental Disorders
		5th International Conference on Ectodermal Dysplasia (ED2012)
		2nd Annual Orphan Drug Congress 2012
		1st European Conference on Aniridia
		10th International Primary Hyperoxaluria Workshop
		7th World Rett Syndrome Congress
		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
		3rd Annual Orphan Drug Summit
		7th European Elastin Meeting
		13th International Workshop on Multiple Endocrine Neoplasia
		The 13th International Meeting on Human Genome Variation and Complex Genome Analysis (HGV2012)
		First International Symposium on the Ehlers-Danlos Syndrome
		15th Biennual Meeting of the European Society for Immunodeficiencies
		Mechanisms of Intellectual Disability: From Genes to Treatment
		EpiRare International Workshop: Rare Disease and Orphan Drug Registries
		Second International Conference on Esophageal Atresia: From the Fetus to the Adult
		15th Society for the Study of Behavioural Phenotypes International Research Symposium and Education Day: Social Phenotypes in Genetic Disorders
		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
		8th International Society for Newborn Screening European Regional Meeting
		6th International Symposium on Childhood MDS and Bone Marrow Failure syndromes
		10th Asia-Pacific Conference on Human Genetics
		7th Alstrom Syndrome International Family Conference and Scientific Symposium
		8th International Prader-Willi Syndrome Conference
	Media, Press & Publications
		Health Policy considers health care structures and services for rare diseases
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