Fwd: Orphanews Europe 22 April 2013

[José Antonio Navarro]

Recordar que este boletín sólo se distribuye en inglés.

Saludos.

---------- Forwarded message ----------
From: <orphanew...@orpha.net>
Date: 2013/4/23
Subject: Orphanews Europe 22 April 2013
To: jana...@yahoo.es

OrphaNews Europe : 22 April 2013
	Editorial
		EMA approach to fee reduction for orphan medicinal products: one step forward two steps back according to EBE and EuropaBio
	National & International Policy Developments
		Other European news
			UK leads pioneering efforts to eliminate mitochondrial diseases
		Other International News
			Novartis loses patent argument for Gleevec in the Indian Supreme Court
			Recommendations for progress in the field of rare diseases in China
			Guidance Documents and Recommendations
				Experts recommendations for managing Familial Hypercholesterolemia
				ACMG recommendations on reporting incidental findings in Clinical Exome and Genome Sequencing: NSCG responds to it
				Experts discuss approval Non-Invasive Prenatal Testing for high risk pregnancies
			Screening and Testing
				Opt-out approach for pilot study to screen for Spinal Muscular atrophy
	Ethical, Legal & Social Issues
		Cost of amyotrophic lateral sclerosis in Taiwan
		New EURORDIS website section focusing on Pharmacovigilance helps rare disease patients report problems with their medicines
	New Syndromes
		A new antibody deficiency syndrome associated with an inherited autosomal dominant mutation in TWEAK
		The 3q26.33-3q27.2 microdeletion syndrome
	New Genes
		Congenital disorder of glycosylation: mosaicism of the UDP-galactose transporter SLC35A2 causes an X-linked disorder with abnormal transferrin glycosylation in infancy
		Autosomal recessive complex spastic paraplegia: a homozygous mutation in TFG, impairing endoplasmic reticulum structure, identified in two siblings with an early-onset disease
		Inclusion body myopathy/Paget disease of bone/FTD/ALS: mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 are responsible in some families
		Left ventricular noncompaction: mutations in the NOTCH pathway regulator MIB1 at cause in autosomal-dominant pedigrees
		Osteogenesis imperfecta: mutations in WNT1, mostly recessive, responsible in different forms of early-onset bone fragility
		Autosomal recessive nonsyndromic intellectual deficit and hyperphosphatasia intellectual deficiency syndrome: mutations in PGAP2, involved in GPI-anchor synthesis, identified
		Adams-Oliver syndrome: recessive mutations in EOGT found at cause in three families, highlighting a developmental role of O-GlcNAcylation
		Perrault syndrome: mutations in CLPP identified in three families and mutations in LARS2 discovered in two other families
		Scalp-ear-nipple syndrome: missense mutations in KCTD1 found responsible in all ten families tested
		2-hydroxyglutaric aciduria: SLC25A1 mutations cause combined D-2- and L-2-hydroxyglutaric aciduria in 12 children and agenesis of corpus callosum and optic nerve hypoplasia in one
		Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2 in a family
		Distal myopathy, Welander type: a mutation in the TIA1 gene, encoding a protein involved in splicing and translational regulation, found responsible
		Primary dystonia, DYT4 type: mutations in the β-tubulin 4a gene (TUBB4A) at cause
		Autosomal dominant spondylocostal dysostosis: first identification of a causal gene, TBX6, in one family
		Walker-Warburg syndrome: two homozygous missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) found responsible in a family
		Arthrogryposis with oculomotor limitation and electroretinal anomalies: gain-of-function mutations in the mechanically activated ion channel PIEZO2 identified in two kindreds
		Distal arthrogryposis: the neuronal endopeptidase ECEL1 is associated with a distinct recessive form
		Double outlet right ventricle: a ZIC3 mutation detected in a female with isolated DORV
		Common variable immunodeficiency: a homozygous PRKCD mutation (c.1352+1G>A) identified in a boy with B cell deficiency and severe autoimmunity
		Autoimmune lymphoproliferative syndrome: a homozygous mutation in PRKCD (c.1840C>T) in a patient with B cell hyperproliferation, NK dysfunction and chronic low grade EBV infection
	Research in Action
		Clinical Research
			Fabry disease: long term enzyme replacement therapy does not prevent disease progression, but longer treatment duration may lower the risk of developing additional complications
			Glycogen storage disease due to acid maltase deficiency: a prospective international observational study shows a positive effect of enzyme replacement therapy on survival in adults
			Nonacetaminophen acute liver failure: N-acetylcysteine did not improve 1-year survival in paediatric patients in a placebo-controlled study
			Precursor B-cell acute lymphoblastic leukaemia: marked antitumour efficacy of 19-28z chimeric antigen receptor-modified T cells in adults with relapsed disease
			Indolent and mantle-cell lymphomas: bendamustine and rituximab more effective and less toxic than rituximab-CHOP as first-line treatment in a phase 3 study
			Enteropathy-associated T-cell lymphoma: autologous stem cell transplantation provides long-term remission in the majority of patients transplanted in first remission
			Systemic sclerosis: a retrospective assessment of autologous haemopoietic stem-cell transplantation
			Sickle cell anaemia: preoperative transfusion was associated with decreased perioperative complications in a randomised, controlled, multicentre clinical trial
			Malignant atrophic papulosis: effective treatment with treprostinil in two patients with MAP or MAP-like lesions
			Mixed cryoglobulinaemia associated with lymphoma: fludarabine, cyclophosphamide, and rituximab (FCR) regimen appears as an effective treatment in seven severe and refractory cases
			Primary mediastinal large B-cell lymphoma: therapy with dose-ajusted-EPOCH-rituximab obviated the need for radiotherapy in a single-group, phase 2, prospective study
		Gene Therapy
			Usher syndrome type 1: sustained rescue of hearing and vestibular function with a single neonatal injection of antisense oligonucleotides in a mouse model
			Leber congenital amaurosis: S/MAR-containing DNA nanoparticles promote persistent retinal pigment epithelium gene expression and improvement in RPE65(-/-) mice
			Duchenne muscular dystrophy: microdystrophin ameliorates muscular dystrophy in the canine model
		Therapeutic Approaches
			Fragile X syndrome: rescue of FMR1 knockout mice phenotype by the small-molecule PAK inhibitor FRAX486
			X-linked centronuclear myopathy: enzyme replacement therapy rescues weakness and improves muscle pathology in model mice
			Acute myeloid leukaemia: fenretinide, a well-tolerated vitamin A derivative, appears as a potent agent that selectively targets leukaemia stem cells
			B-cell chronic lymphocytic leukaemia: remarkable efficacy of a humanised monoclonal antibody specific for CD44
			Menkes disease: L-threo-dihydroxyphenylserine corrects neurochemical abnormalities in a mouse model, but without arrest of global brain pathology nor improvement of somatic growth
			Amyotrophic lateral sclerosis: molecular chaperone HSP110 rescues a vesicle transport defect produced by an ALS-associated mutant SOD1 protein in squid axoplasm
		Diagnostic Approaches
			Autosomal dominant nonsyndromic sensorineural deafness type DFNA: predicting genotypes from phenotypes to guide genetic screening with the software system AudioGene
	Patient Management and Therapy
		Autoinflammatory diseases: results from the Eurofever Registry and a literature review proposed as a basis for therapeutic guidelines
		Low-risk papillary and differentiated thyroid cancers: two reviews
		Aristolochic acid nephropathy: a narrative review on epidemiology, diagnosis, and management
	Orphan Drugs
		Regulatory News
			A new model for the drug development pipeline
			The regulatory success of Protein Replacement therapies
		Political and Scientific News
			Small clinical trials: challenges and support
	Grants
		Funding announced to develop treatment for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
		Funding available to investigate treatment for Plexiform Neurofibroma
		NORD announces seed grants for rare disease research
		Jerome Lejeune Foundation announces Prix International Sisley-Jérôme Lejeune
		Call for Abstracts from researchers studying Rare Diseases for publication in the Journal of General Internal Medicine
	Partnersearch, Job Opportunities
		Position for Bioinformatics Group at The Institute of Genetic Diseases Imagine
		Research Associate/ Postdoctoral Scientist: to lead on impact activities for EU network
	Courses & Educational Initiatives
		International Summer School “Clinical practice guidelines on rare diseases”
	What's on Where?
		International Rare Diseases Research Consortium Conference 2013
		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
		12th European Symposium on Congenital Anomalies
		10th HHT Scientific Conference
		World Orphan Drug Congress Asia
		6th International Conference on Children's Bone Health
		Fifth BHD Symposium and Second HLRCC Symposium
		9th European Cytogenetics Conference
		8th International Prader-Willi Syndrome Conference
		Orphan Drugs Summit 2013
		2nd Conference of 'EB-CLINET - Clinical Network of EB Centres and Experts'
		Mitochondrial Disease: Translating biology into new treatments
		Orphan Drug & Rare Disease Seminar “Accelerating access to therapeutic innovation”
		3rd European Rett Syndrome Conference Maastricht, “Research Update & Preventive Management”
		Thalassemia International Federation World Congress
		First International Primary Immunodeficiencies Congress (IPIC)
		14th International Congress on Neuronal Ceroid Lipofuscinoses (Batten Disease)
Unsubscribe