Fwd: Orphanews Europe 18 April 2012

[José Antonio Navarro]

Boletín de Orphanews de abril, como siempre solo en inglés. Puede que encuentren algo de su interés.

Saludos.

---------- Forwarded message ----------
From: <orphanew...@orpha.net>
Date: 2012/4/18
Subject: Orphanews Europe 18 April 2012
To: jana...@yahoo.es

OrphaNews Europe : 18 April 2012
	Editorial
		Could a general rare disease guideline for health professionals help facilitate innovative strategies for working with patients?
	EU Policy News
		EMA
			Pilot launched for electronic application of centralised marketing authorisation submissions
	National & International Policy Developments
		Slovakia forms a national rare disease alliance
		Italian petition seeks formal recognition for a number of rare diseases presently not covered under the country’s reimbursement scheme
		Other European news
			European Patients Academy on Therapeutic Innovation launches as an educational resource on medicinal product research and development
			A survey of the impact of regional health care structures on diagnosis for a rare disease highlights health information technology
		Other International News
			Report from two workshops on newborn screening efforts in the Asia Pacific Region shows determination despite elusive funding
			Canada’s rare diseases are lost in the wilderness when it comes to research
			Bioinformatics, Registries and Data Management
				New research programme gathers genetic and clinical data on children born with cleft lip and/or palate
				What to do with incidental findings in biobanks and other archived genetic datasets?
	Ethical, Legal & Social Issues
		The unique position of the rare disease patient - and the treating physician - in the patient-physician role
	Orphanet News
		Orphanet is well LOVD with a new link to its gene pages
		Results of the 2011 Orphanet satisfaction survey now available
	New Syndromes
		A new syndrome due to a germline mutation in PIGA
		Four cases presenting with unusual phenotype including peripheral nerve tumors, marfanoid habitus and distinct facial features
		Bilateral congenital cataract and cleft palate in a family: a new syndrome?
		Onychocytic matricoma: a new matrical tumour of the nail
	New Genes
		Mitochondrial diseases: mutations of NDUFB3 and AGK respectively involved in complex 1 deficiency and Sengers syndrome
		Pseudohypoaldosteronism type 2: role for KLHL3 and CUL3 in blood pressure, K+ and pH homeostasis
		Ehlers-Danlos syndrome: mutations in FKBP14 cause a variant sharing many features with the kyphoscoliotic type
		X-linked megalocornea: involvement of mutations in CHRDL1 highlights an essential role for ventroptin in anterior segment development
		Genitopatellar syndrome: 11 cases due to de novo mutations in KAT6B suggesting a dysregulation of histone acetylation during development
		Familial congenital mirror movements: unexpected role of RAD51 in neurodevelopment
		Floating-Harbor syndrome: mutations in SRCAP are the major cause and explain clinical overlap with Rubinstein-Taybi syndrome
		Congenital stationary night blindness: a recessive form due to mutations in GPR179
		Tylosis-oesophageal carcinoma: a RHBDF2 dysregulation that might be similar in sporadic esophageal squamous cell carcinomas
		Autosomal dominant microcephaly with lymphedema and chorioretinopathy: mutations in KIF11 suggesting a role of EG5 in CNS development
		Congenital disorders of glycosylation: mutations in DDOST decrease N-glycosylation
		Mandibulofacial dysostosis with microcephaly: haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 at cause
		Herpetic encephalitis can be underlain by immune deficiency due to TRIF mutations
		Hereditary spastic paraplegia: mutations found in RTN2 involve the endoplasmic reticulum morphogenesis
		Rotor syndrome: mutations affecting OATP1B1 and OATP1B3 interrupt bilirubin hepatic reuptake and may cause drug hypersensitivities
		Idiopathic CD4 lymphocytopenia: a mutation in Unc119 impairs TCR signaling in one patient
		Autosomal dominant limb-girdle muscular dystrophy type 1D/1E: a mutation in the desmine gene, located on chromosome 2, is responsible
		Sotos syndrome: mutations in the DNA-binding/dimerization domain of NFIX associated with the main features of the disease
		Wiskott-Aldrich syndrome: WIP deficiency induces WAS protein instability
		Squamous cell carcinoma of head and neck is frequently linked to an activation of the EGFR/PI3K pathway due to a deletion of PTPRS
		Pentosuria: 2 mutations identified in DCXR
	Research in Action
		Retrospective outcome studies for orphan conditions are almost as rare as the diseases themselves…
		Fundamental Research
			Amyotrophic lateral sclerosis: mutations found in TAF15 suggest a broad contribution of aggregation-prone RNA-binding proteins
			Amyotrophic lateral sclerosis: D-Amino acid oxidase controls motoneuron degeneration through D-serine
			Hypoxic pulmonary hypertension: digoxin attenuates the pulmonary vascular effects of chronic hypoxia in mice
			Bardet-Biedl syndrome: differences between mouse models suggest that each BBS protein has a specific function different from that of BBSome
			Spastic ataxia, Charlevoix-Saguenay type: abnormalities of the dynamics of mitochondrial compartment preceding Purkinje cell death in mice
			Mitochondrial cardiomyopathy: the effects of a ketogenic diet in mice demonstrate a connection between mediator complex and oxidative phosphorylation
			Ataxia-telangiectasia: the gene loss responsible for T-cell malignancies also induces mitochondrial dysfunction
		Clinical Research
			Systemic juvenile idiopathic arthritis: promising treatment trial with Canakinumab, a human anti-interleukin-1 β antibody
			Refractory granulomatosis with polyangiitis: efficacy of rituximab, notably on vasculitic manifestations
			Pompe disease: tolerance induction to enzyme replacement therapy in 4 infant patients
			Sanfilippo disease: no clinical efficacy with genistein at 10mg/kg/day
			Dementia in adults older than 40 years with Down syndrome: no improvement with a treatment effective for Alzheimer disease
			Primary biliary cirrhosis: beneficial immunological and biochemical effects of rituximab in patients who respond poorly to ursodeoxycholic acid
			Neurofibromatosis type 1: patients show low bone mineral density and a bad response in vitro to biphosphonates used against osteoporosis
			Paediatric pulmonary hypertension: a specificity that requires taking into account pediatric data rather than extrapolating from adult cases
			Primary immunodeficiency: 2011 update of the internet-based patient and research database network of the European Society for Immunodeficiencies
			Endometrial stroma sarcoma: excellent 5-year overall survival but relapses justify systemization of adjuvant treatment
			Autoimmune liver diseases: increased mortality due to liver-related death and higher cancer risk with AIH and PSC
			Charcot-Marie-Tooth disease type 1: copy number mutations in MPZ disturb myelination
			Trisomies 13, 18 and 21: screening with DNA sequencing of circulating fetal cells of maternal plasma is reliable and reduces fetal loss risk
			Inherited cardiomyopathy: a focus on the genetic basis, models of pathogenesis associated with known mutations, and genetic testing
			Cancer in pregnancy: a challenging conflict of interest between the mother's health and that of the fetus
			Primary angiitis of the central nervous system: a comprehensive comparison of childhood and adult forms
		Stem Cells
			Duchenne muscular dystrophy: myogenic cells obtained from mesenchymal stromal cells graft in a dog model
			Marfan syndrome: patient-specific induced-pluripotent stem cells can provide a human MFS model
			Human embryonic stem cells: a tendency to genomic instability calls for additional quality control
			Malignant hyperthermia can be prevented by AICAR in mice with RYR1 mutation
			Rubinstein-Taybi syndrome: growth factor BMP2/7 supplementation in utero partially reverses skeletal defects in mice
		Gene Therapy
			Duchenne muscular dystrophy: a translational optimized vector and restoration of functional dystrophin with exon skipping therapy
			Congenital factor VII deficiency: perinatal AAV-mediated gene transfer results in therapeutic levels of FVII in mice and monkeys
			Pompe disease: spinal delivery of AAV vector encoding acid α-glucosidase restores enzyme activity and increases ventilation in mice
			Mucopolysaccharidosis type 3A: liver production of sulfamidase reverses glycosaminoglycan storage in somatic tissues and ameliorates CNS pathology in mice
			Inherited retinopathies: an overview of gene therapies targeting the primary genetic defect or the associated effects
			Retinitis pigmentosa: recent developments, potential and limitations of optogenetic therapy
		Therapeutic Approaches
			Hereditary sensory and autonomic neuropathy type 1: oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids
			Cushing disease: inhibition of EGFR signaling opens new therapeutic perspectives
			Huntington disease: stimulation of the PPAR-PGC-1 α axis has neuroprotective effect
			Gaucher disease: histone deacetylase inhibitors restore activity of glucocerebrosidase by preventing its degradation
	Patient Management and Therapy
		Marfan syndrome: guidance for evaluation and diagnosis of individual with some features of the disease
		A review of Lyme disease
		Hereditary angioedema: an overview with specific emphasis on the new treatments of acute swellings
		Chordoma: current standards in diagnosis, management, and future directions
		Rare adipose disorders: not to be confused with lipodystrophies
		Hepatocellular carcinoma: 37 statements and recommendations for liver transplantation
		A review of posterior cortical atrophy
	Orphan Drugs
		Regulatory News
			The month of March proves lucky with thirteen positive opinions for orphan designation from the COMP
		Political and Scientific News
			The impact of clinical pharmacology on orphan drug development
	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
		Orphan Academy 2012 Programme
		EuroGentest Quality Management and Accreditation/Certification of Genetic Testing Workshops
	What's on Where?
		World Pulmonary Hypertension Day-Scientific Symposium
		8th International Congress on Autoimmunity
		7th Alstrom Syndrome International Family Conference and Scientific Symposium
		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
		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
		The 13th International Meeting on Human Genome Variation and Complex Genome Analysis (HGV2012)
		First International Symposium on the Ehlers-Danlos Syndrome
		15th Biennual Meeting fo the European Society for Immunodeficiencies
		Mechanisms of Intellectual Disability: From Genes to Treatment
		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
		10th Asia-Pacific Conference on Human Genetics
		8th International Prader-Willi Syndrome Conference
	Media, Press & Publications
		Basic and clinical aspects of von Willebrand disease brought up to date in a new textbook
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