Fwd: Orphanews Europe 10 October 2012

[José Antonio Navarro]

Último boletín desde OrphaNews, como siempre por si alguno de los aspectos tratados fuera de interés y recordando que solo se distribuye en inglés.

Saludos.

---------- Forwarded message ----------
From: <orphanew...@orpha.net>
Date: 2012/10/10
Subject: Orphanews Europe 10 October 2012
To: jana...@yahoo.es

OrphaNews Europe : 10 October 2012
	Editorial
		Going with the flow:
		EUCERD's recommendation for improving the assessment of the Clinical Added Value of Orphan Medicinal Products encourages the creation of an Information Flow
	EUCERD update
		EUCERD gets a fresh look and updated website
	EU Policy News
		DG Research
			Biobanks for Europe: A challenge for governance
		EMA
			Public consultation on the experience gained from five years of the Paediatric Regulation
	National & International Policy Developments
		Improving access to orphan drugs in Bulgaria and other Eastern European countries
		Recommendations to improve orphan drug legislation in Europe based on the results of a Delphi policy study involving European orphan drug experts
		New scheme in England allows researchers to access National Health Service patient records
		European court rules that Italian law prohibiting pre-implantation diagnosis violates human rights
		Other European news
			First Wellcome Trust Pathfinder Awards encourage academic-industry collaboration for two rare diseases
		Other International News
			Pinpointing rare disease prevalence in Taiwan
			Guidance Documents and Recommendations
				Recommendations for the management of several paediatric cancers in free access
				Barrett esophagus: international consensus statements for management of Barrett's dysplasia and early-stage esophageal adenocarcinoma
			Bioinformatics, Registries and Data Management
				MeSH Concepts yield more precise results for rare disease Medline information retrieval
			Screening and Testing
				Special issue of the Cancer Journal devoted to genetic testing and counselling for cancer
				Integrated genome-phenome analyzer automates clinical correlation in whole genome and exome sequencing
	New Syndromes
		A novel congenital myopathy with specific biopsy features and dominant mutation of CCDC78
		A 17p13.1 microdeletion syndrome inducing microcephaly, intellectual disability, distinctive facial features and body posture
		Skeletal dysplasia, facial characteristics and developmental delay: a new syndrome resembling Desbuquois dysplasia
		Microcephaly, intrauterine and postnatal severe growth retardation, and minimal skeletal dysplasia in two children
	New Genes
		Familial thoracic aneurysm and dissection: TGFB2 mutations induce a syndromic form occurring as part of diseases like Marfan or Loeys-Dietz syndromes
		Potocki-Shaffer syndrome: translocations disrupting PHF21A are associated with intellectual disability and craniofacial anomalies
		Wiedemann-Steiner syndrome: MLL haploinsufficiency disturbs epigenetic regulation of chromatin
		Osteogenesis imperfecta type 5 is due to mutation in the 5’-UTR of IFITM5
		Nephronophtisis-associated ciliopathy: ZNF423 and CEP164 mutations link renal ciliopathies to DNA damage response
		Late-onset autosomal recessive medullary cystic kidney disease: FAN1 mutations tie chronic kidney failure to defective DNA damage repair
		Weill-Marchesani syndrome: LTBP2 mutations strengthen the hypothesis of a disruption in the extracellular matrix
		Colobamatous microphtalmia: a mutation in ODZ3 highlights its role in the early development of the human eye
		Persistent hyperplastic primary vitreous: a mutation in ATOH7 causes a recessive form etiologically related to nonsyndromic congenital retinal nonattachment
		Retinitis pigmentosa: an OFD1 mutation causes the severe form RP23 thus joining retinal ciliopathies group
		Primary cutaneous diffuse large B-cell lymphoma, leg type: a specific MYD88 mutation however not present in all cases
	Research in Action
		Fundamental Research
			Osteogenesis imperfecta types 1, 2, 3, and 4: collagen mutations impair cardiopulmonary function in a bone-independent manner
			Systemic sclerosis: a mouse model mimicking the conditions responsible for pulmonary arterial hypertension
			Amyotrophic lateral sclerosis: overexpressing the SMn protein in mSOD1 mice delays but does not halt the loss of motor neurons
			Charcot-Marie-Tooth disease type 4J: neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration
			Oculocerebrorenal syndrome: the localization and function of the OCRL protein suggest an involvement of the primary cilium
			Autosomal dominant lateral temporal lobe epilepsy: a rat model for Lgi1-related epilepsies
			Huntington disease: PGC-1α induction virtually eliminates huntingtin aggregation and ameliorates neurodegeneration in a mouse model
		Clinical Research
			Idiopathic aplastic anemia: a thrombopoietin mimetic associated with multilineage hematologic responses in some patients with refractory severe form
			Graft versus host disease: inhibition of lymphocyte trafficking reduces incidence of acute visceral forms without major adverse effects
			Prader-Willi syndrome: beneficial effects of GH treatment on cognitive disorders in children
			Acquired hemophilia management: results from the European Acquired Haemophilia (EACH2) Registry
			POEMS syndrome: autologous stem cell transplantation improves long-term outcome
			Beta-thalassemia major: a safe and efficient tritherapy as preparative regimen of allogeneic hematopoietic stem cell transplantation
			Idiopathic and/or familial pulmonary arterial hypertension and hyperthyroidism: a rather frequent association that should be detected early
			Achondroplasia: lung function, upper airway and sleep should be regularly checked in affected children
			Ataxia-telangectasia does not lead to increased risk for birth defects or adverse pregnancy outcomes other than those due to vascular lung anomalies
			Bullous pemphigoid: increase of incidence during the last 15 years in France with a high standardized mortality ratio
		Stem Cells
			Congenital erythropoietic porphyria: metabolic correction obtained in erythroid cells derived from corrected induced pluripotent stem cells
			Amyotrophic lateral sclerosis: motor neurons generated from patients-derived IPSc used to study the mechanisms of the disease
		Gene Therapy
			Facioscapulohumeral dystrophy: DUX4 gene silencing through RNA interference is myoprotective in a mouse model
			Mucopolysaccharidosis type 7: efficiency of vectors used for gene therapy can be impacted by disease manifestations
			Leigh syndrome: fatal breathing dysfunction in a mouse model with NDUFS4 inactivation, partially corrected by a gene therapy strategy
			Transmissible spongiform encephalopathies: neurodegeneration is due to translational repression by eIF2α-P
		Therapeutic Approaches
			Muscle dystrophy and dilated cardiomyopathy: rapamycin and its analogs improve cardiac and skeletal muscle function in mice
			Retinitis pigmentosa: restoration of visual responses in mice models after intraocular injection of a synthetic small molecule
			Pelizaeus-Merzbacher disease: a cholesterol-enriched diet enhances oligodendrocyte number and function and prevents disease progression in mice
			Idiopathic and/or familial pulmonary arterial hypertension: therapeutic potential of valproic acid and suberoylanilide hydroxamic acid
			X-linked creatine transporter deficiency: cyclocreatine treatment improves cognitive abilities in a newly developed mouse model
		Diagnostic Approaches
			Cornelia de Lange syndrome: identification of a prenatal profile
			Coffin-Siris syndrome: a diagnostic approach
	Patient Management and Therapy
		Ehlers-Danlos syndrome, hypermobility type: how to assess and treat pain and fatigue?
		Intellectual disability: a digital tool to enhance diagnosis and care for rare diseases
	Orphan Drugs
		Regulatory News
			First paediatric-specific dosage form approved for a paediatric cancer in the USA
		Political and Scientific News
			Is the special status assigned to orphan drugs justified?
			Fabry disease: positive preliminary findings after switching from agalsidase beta (Fabrazyme) to agalsidase alfa (Replagal) in Japanese patients
	Grants
		Myotubular Trust issues fifth call for projects to international applicants
	News from the Patients' Associations
		When Mother knows best ...
	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?
		2nd Annual U.S. Conference on Rare Diseases and Orphan Products
		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
		41st European Society of Clinical Pharmacy Symposium: Personalised and Safe Therapy
		6th International Workshop on Alkaptonuria
		International Ataxia Research Conference
		8th International Society for Newborn Screening European Regional Meeting
		6th International Symposium on Childhood MDS and Bone Marrow Failure syndromes
		3rd Annual World Orphan Drug Congress
		Translating Genomics Conference
		10th Asia-Pacific Conference on Human Genetics
		Symposium ATP1A3 in Disease: From Gene Mutations to New Treatments
		3rd Annual World Orphan Drug Congress
		First GENCODYS International Conference: Integrative Networks in Intellectual Disabilities
		7th Alstrom Syndrome International Family Conference and Scientific Symposium
		Autoinflammation 2013: 7th International Congress of the International Society of Systemic Auto-Inflammatory Diseases
		9th European Cytogenetics Conference
		8th International Prader-Willi Syndrome Conference
		First International Primary Immunodeficiencies Congress (IPIC)
	Media, Press & Publications
		Three new German-language articles consider off-label drug use
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