Fwd: Orphanews Europe 21 September 2012

[José Antonio Navarro]

Aquí está el último boletín de OrphaNews, por si os pudiera resultar de interés.

Saludos.

---------- Forwarded message ----------
From: <orphanew...@orpha.net>
Date: 2012/9/21
Subject: Orphanews Europe 21 September 2012
To: jana...@yahoo.es

OrphaNews Europe : 21 September 2012
	Editorial
		Czech National Rare Disease Plan 2012-2014 officially adopted!
	Spotlight on...
		NoTube online Internet coaching for feeding-tube dependent children offers an example of how cross-border e-health care can reduce patient costs
	EU Policy News
		European Commission adopts three texts promoting access to publicly funded scientific research
		EMA
			New leadership at the Committee for Orphan Medicinal Products
			Consultation launched on inventory of paediatric cardiovascular medicines
	National & International Policy Developments
		Appraisal of medicinal products for very rare conditions moves to England’s National Institute for Health and Clinical Excellence
		New article describes Australia’s progress in creating a national rare disease plan
		Dutch government debates reimbursement policies for expensive lysosomal storage disease products
		Other European news
			French website now available in English language could serve as a source of inspiration
			New publication maps the rare disease resources available in Madrid
			New funding mechanism in the Netherlands seeks to bridge gap between fundamental research and therapies for rare diseases
		Other International News
			International haemophilia congress enjoys a record turnout as participants gather to celebrate the fiftieth anniversary of the World Federation of Hemophilia
			Centers for Mendelian Genomics apply next-generation sequencing and computational approaches to identify the genes and variants underlying Mendelian conditions
			Prenatal and neonatal screening practices increasing in low- and middle-income countries
			Guidance Documents and Recommendations
				Society for Inherited Metabolic Disorders issues statement on investigational new medicines for rare diseases
				Haemophilia: guidelines from the World Federation of Hemophilia
				International consensus statement on standard of care for congenital myopathies
	New Syndromes
		A new primary immunodeficiency associated with STK4 mutations
		A progressive polyepiphyseal dysplasia with arthropathy distinct from the genetic inflammatory/rheumatoid-like osteoarthropathies known to date
		Hereditary systemic amyloidosis due to Asp76Asn variant β2-microglobulin causing visceral amyloid deposits
		A 5q31.3 microdeletion syndrome characterized by hypotonia, feeding difficulties, respiratory distress, developmental delay and distinctive facial features
		Facial palsy, hearing loss, and dysmorphic features due to a human HOXB1 mutation inducing the Hoxb1-/- mice phenotype
	New Genes
		PIK3CA mutational spectrum at cause in several diseases with various tissues overgrowth
		Cantu syndrome: dominant missense mutations in or near the transmembrane domains of ABCC9 result in a KATP channel opening
		IMAGe syndrome: mutations in the PCNA-binding domain of CDKN1C inhibit growth through loss of interaction between these two genes
		Familial glucocorticoid deficiency: knockdown of NNT highlights its primary importance for ROS detoxification in adrenocortical cells
		Nevus sebaceus syndrome due to postzygotic HRAS and KRAS mosaic mutations
		3-methylglutaconic aciduria type 4: SERAC1 mutations impair mitochondrial function and intracellular cholesterol trafficking
		GATA1 mutations impair erythropoiesis and expand the genetic basis of Blackfan-Diamond disease
		Rare hereditary thrombophilia: a prothrombin mutation induces thrombosis through antithrombin resistance
		Mutations in MBD5, MLL3, SMARCB1, and NR113, all epigenetic regulators interacting directly or not with EHMT1, involved in the Kleefstra syndrome spectrum
		Spinal muscular atrophy associated with progressive myoclonic epilepsy: ASAH1 mutations inducing moderate reduction of acid-ceramidase activity at cause
		Pityriasis rubra pilaris : the familial form associated with mutations in CARD14, a regulator of NF-κB also mutated in familial psoriasis
		Congenital myasthenic syndromes: DPAGT1 mutations disrupt glycosylation and export of acetylcholine-receptors and cause a limb-girdle type
		Infantile neuronal ceroid lipofuscinosis associated with a mutation in KCTD7 that might alter protein-degradation systems
		PIGO mutations strengthen the role of GPI-anchor in hyperphosphatasia intellectual deficiency syndrome
		Distal hereditary motor neuropathy type 5: a mutation found in REEP1 broadens the spectrum of motor neuron diseases linked to defects in this gene
		CDG syndrome: TMEM165 mutations causes Golgi glycosylation defects
		Juvenile idiopathic arthritis: identification of novel susceptibility loci conferring also rheumatoid arthritis risk
		Familial isolated hypertrophic cardiomyopathy: FHL1 mutations suggest a mechanism of toxic mutants accumulation due to proteasome impairment
		Mutations in ST18, involved in apoptosis, predispose to Pemphigus vulgaris in a population-specific manner
		EXOC8 gene associated with Joubert syndrome and GFM2 with Wolcott-Rallison syndrome
		A de novo homoplasmic mitochondrial tRNA mutation involved in a fatal neonatal lactic acidosis due to severe respiratory chain deficiency
	Research in Action
		Clinical study recruits alkaptonuria (AKU) patients to evaluate new medicine
		Fundamental Research
			WHIM syndrome: proper desensitization of CXCR4 required for lymphocyte development and peripheral compartmentalization in mice
			Acquired thrombotic thrombocytopenic purpura: prophylactic and therapeutic effects of a recombinant human ADAMTS13 in a mouse model
			Charcot-Marie-Tooth disease type 1B: a mouse model with a MPZR98C mutation suggests a link between MpzR98C accumulation in ER and myelination delay
			Myophosphorylase deficiency: a new knock-in mouse model replaces the wild-type allele of Pygm with a modified allele carrying the common human mutation, p.R50X
			Hutchinson-Gilford progeria syndrome: protection of neural cells appears to derive from a specific miR-9 expression reducing prelamin A presence
			Huntington disease: overexpression of Rab11, a key actor of endosomal recycling, reverses signs of early synaptic dysfunction
			Lyme disease: spirochete antigens persist near cartilage after treatment in mouse and could contribute to antibiotic-refractory Lyme arthritis
			Acrodermatitis enteropathica, zinc deficiency type: knockout of ZIP4 in mouse disrupts the intestinal stem cell niche and the villus enterocyte integrity
			Lysosomal ARSG sulfatase deficiency results in heparan sulfate storage and mucopolysaccharidosis type 3 phenotype in mice
		Clinical Research
			Takayasu arteritis: TNF inhibitors induce remission in cases refractory to immunosuppressants but with some relapses and adverse effects
			Immune thrombocytopenic purpura: 25% of adults and children maintain their platelet count at least 5 years after rituximab therapy
			Follicular lymphoma: nonmyeoloablative stem cell transplantation following chemotherapy induces complete long-term response after relapse
			Higher proportion of Upshaw-Schulman syndrome cases with pregnancy-onset thrombotic thrombocytopenic purpura than in adult-onset
			Pixantrone is an efficacious and tolerable single-agent salvage therapy for patients with relapsed or refractory aggressive non-Hodgkin lymphoma
			Temozolomide alone as good as radiotherapy alone for elderly patients with malignant glioma but MGMT promoter methylation status has to be taken into account
			Arginine supplementation improves cognitive and linguistic capacities in children with X-linked creatine transporter deficiency
			Ciclosporin A is safe and may partially reverse the clinical deterioration in patients with early and/or progressive tropical spastic paraparesis
			Beneficial effect of pioglitazone in mice with amyotrophic lateral sclerosis not observed when combined with riluzole in a study in humans
		Stem Cells
			Autosomal recessive limb-girdle muscular dystrophy type 2D: genetically corrected IPSC-derived mesangioblasts enhance motor capacity in mice
		Gene Therapy
			Duchenne muscular dystrophy: gene transfer of claudin-5 can prevent or improve cardiomyopathy in mouse
		Therapeutic Approaches
			Infantile neuronal ceroid lipofuscinosis: a gene therapy combined with bone marrow transplantation increases lifespan and improves motor function in mice
			Fragile X-associated tremor/ataxia syndrome: allopregnanolone can mitigate burst firing patterns in a concentration-dependent and reversible manner in mouse
			Friedreich ataxia: IFNγ increases frataxin expression in DRG neurons, protects them and improves sensorimotor functions in a murine model
			Tuberous sclerosis: prevention of associated neurodevelopmental abnormalities by perinatal rapamycin treatments
			Niemann-Pick disease type C: ryanodine receptor antagonists ameliorate lipid storage in patients fibroblasts
			Hemophilia B: a short course of immunosuppression results in eradication of anti-human F IX after a therapeutic gene transfer in macaques
			Huntington disease: transient huntingtin mRNA silencing provides sustained phenotype reversal in mice and monkeys
			Osteogenesis imperfecta type 4: a proteasome inhibitor ameliorates both osteoblast differentiation in vitro and bone properties in mice
			Duchenne muscular dystrophy: recombinant human MG53, an actor of cell membrane repair, decreases muscle pathology in a murine model
			Fibrodysplasia ossificans progressive: silencing targeting ALK2 mutants restores normal levels of osteogenic differentiation in stem cells of patients
		Diagnostic Approaches
			Screening of immunodeficiency with factor I anomaly should be performed for patients with low C3 fragments levels and recurrent bacterial infections
			A cost-effectiveness analysis in favor of implementation of newborn screening of medium chain acyl-CoA dehydrogenase deficiency in France
			Pulse oximetry screening for congenital heart malformations in asymptomatic newborns
	Patient Management and Therapy
		Cushing disease: a review summarizing potential pathophysiological mechanisms, diagnostic approaches, and therapies
		Four standardized consensus treatment plans intended to optimize effectiveness of systemic-onset juvenile idiopathic arthritis management
		Autosomal dominant optic atrophy: a review on clinical aspects, genetics, diagnosis and prognosis
		X-linked adrenoleukodystrophy: a review on phenotypes, diagnosis, and management
		Primary amyloidosis: a review on clinical description, diagnosis, and management
		Guillain-Barre syndrome: a review
		Cholera: from causative agent to prevention
		Babesiosis: an emerging health risk in several parts of the world
		Three new Clinical Utility Gene Cards available
	Orphan Drugs
		Regulatory News
			14 positive opinions recommending orphan designation in July and 12 more in September from the COMP
		Political and Scientific News
			America takes the gold when it comes to review times for novel therapeutics
	Grants
		The European Clinical Research Infrastructures Network (ECRIN) issues call supporting multinational extension of rare disease clinical trials
	Courses & Educational Initiatives
		European Cytogeneticists Association Courses
		Online Master of Science in Haemoglobinopathy
		Goldrain Courses in Clinical Cytogenetics and Prenatal Genetic Diagnosis
		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?
		Joint DIA/ EFGCP/ EMA Medicines for Children Conference on Development of Paediatric Medicines: From Learning to Adapting
		15th Biennial 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
		Orphan Drugs & Rare Diseases Conference
		Days of Molecular Medicine 2012 Conference: The Translational Science of Rare Diseases - From Rare to Care
		15th Society for the Study of Behavioural Phenotypes International Research Symposium and Education Day: Social Phenotypes in Genetic Disorders
		FDA/EMA Orphan Product Designation and Grant Workshop
		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
		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
		10th Asia-Pacific Conference on Human Genetics
		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
		A new book provides a comprehensive overview of the paraneoplastic syndromes
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