Fwd: Orphanews Europe 21 December 2011

[José Antonio Navarro]

Nuevo boletín de Orphanews, como siempre por sí algo pudiera ser de interés alguno de los aspectos tratados.
También con mis deseos de una feliz navidad y un próspero 2012 para todos en lo personal y en cuanto a las enfermedades raras se refiere.

---------- Mensaje reenviado ----------
De: <orphanew...@orpha.net>
Fecha: 22/12/2011 02:29
Asunto: Orphanews Europe 21 December 2011
Para: <jana...@yahoo.es>

OrphaNews Europe : 21 December 2011
	Editorial
		2011 draws to a close on a note of optimism as the pace of rare disease research quickens and initiatives move forward on several fronts
	EUCERD update
		Warm holiday wishes from the European Union Committee of Experts on Rare Diseases
	EU Policy News
		New report on clinical added value of orphan drugs in the EU now available
		DG SANCO
			DG Sanco issues 2012 Work Plan; related calls for proposals now open
	National & International Policy Developments
		« Ultra-orphan » Act proposes fast-track incentives for low-prevalence rare diseases in the USA
		Spanish rare disease research network Ciberer issues 2010 activity report and defines its strategy for 2012
		Revised screening standards for sickle cell disease and thalassaemia in the UK
		Other International News
			Parlez-vous genetics?
			First rare disease summer school for Russian stakeholders brings awareness of the added-value of rare disease initiatives
			Taiwan faces destruction of millions of biospecimens; and helps a rare disease patient from China
	Ethical, Legal & Social Issues
		Stem cell patent ban draws mixed responses from researchers in Europe
	EU Project Follow-up
		Network of Excellence CliniGene releases video on gene therapy
	Orphanet News
		The Orphanet annual online survey seeks feedback to make the rare disease and orphan drug information portal the best it can be!
		New Texts
			New Orphanet Journal of Rare Diseases publications
	New Syndromes
		Hypermethioninaemia, encephalopathy, and abnormal liver function caused by adenosine kinase deficiency
		A syndrome of neonatal-onset inflammatory skin and bowel disease linked to ADAM17 loss-of-function mutation
		Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus
		Megacystis, megacolon, and malrotation may be a new syndromic association
	New Genes
		Isolated NADH-CoQ reductase deficiency: a nonsense NDUFA12 mutation identified in a patient
		Neural tube defects: association of mutations in the planar cell polarity gene, Fuzzy
		Juvenile amyotrophic lateral sclerosis: a sigma-1 receptor mutation at cause in a family with autosomal recessive inheritance
		Restrictive cardiomyopathy: mutations in sarcomere genes TPM1, MYL2, and MYL3 can be associated
		Melanoma and renal cell carcinoma: a SUMOylation-defective MITF germline mutation predisposes to both cancers
	Research in Action
		Fundamental Research
			Proximal spinal muscular atrophy: intrinsic pathology of skeletal muscle is an important event, reversible in a mouse model
			Glycogen branching enzyme deficiency: a novel mouse model recapitulates early and adult onset diseases
			Shwachman-Diamond syndrome: defective ribosome biogenesis underlies the pathogenesis
			Rett syndrome: MeCP2 mutations affect large scale chromatin organisation
			Huntington disease: H2AFY is a potential biomarker associated with disease activity and pharmacodynamic response
			Sandhoff disease: rAAV2/1-Hex gene therapy improves outcome by preventing neuronal loss in the brain of model mice
		Clinical Research
			Immune thrombocytopenic purpura: 2-year results of a compassionate-use programme confirm safety and efficacy of romiplostim
			Primary amyloidosis: long-term results after high-dose melphalan and autologous stem cell transplantation for 421 patients
			Neurofibromatosis type 1: reduction in life expectancy found to be around eight years in a British study
			Pulmonary hypertension: epidemiology and characterisation of paediatric cases in the Netherlands
			Craniopharyngioma: use of combined search criteria improved validity of case retrieval in a general disease registry
			Ovarian cancer: BRCA2 mutation associated with improved survival, chemotherapy response, and genome instability
			Autosomal recessive nonsyndromic intellectual deficit: 11 novel loci identified, confirming high heterogeneity
		Stem Cells
			Alpha-1 antitrypsin deficiency: proof of principle for combining induced pluripotent stem cells and targeted gene correction
		Gene Therapy
			B-cell leukaemias: promising results with chimeric antigen receptor-modified T cells in advanced CLL or relapsed ALL
			Leber congenital amaurosis: safety and efficacy of gene therapy in 15 children and adults followed up to 3 years
			Hutchinson-Gilford progeria syndrome: remarkable effects of splicing-directed therapy in a new mouse model
			Cystic fibrosis: pre-clinical evaluation of three non-viral gene transfer agents after aerosol delivery to the ovine lung
		Therapeutic Approaches
			Glioblastoma: targeted nanoparticle enhanced proapoptotic peptide shows promise in mouse models
			Glioma: epileptic activity can be reduced by a drug blocking a glutamate transporter in glioma-bearing mice
			Rapidly progressive glomerulonephritis: targeting the HB-EGF-EGFR pathway could be beneficial
		Diagnostic Approaches
			Duchenne and Becker muscular dystrophies: comprehensive mutational search using next-generation sequencing technology
	Patient Management and Therapy
		Primary cutaneous CD30+ lymphoproliferative diseases: international consensus recommendations for disease management
		Angiosarcoma: state of the art and perspectives
		Three new Clinical Utility Gene Cards available
	Orphan Drugs
		The COMP wraps up 2011 with nine positive opinions in December recommending orphan designation
		FDA approves two rare disease treatments and takes heat from consumer group for approving another
		Clinical pharmacology as a cornerstone of orphan drug development
	Courses & Educational Initiatives
		ESH-ENERCA Training Course: Diagnosis and Management of Very Rare Anaemias
		European Cytogeneticists Association Course
		Tenth European Course on the Evaluation of Medicinal Products in Children
		The European School of Genetic Medicine celebrates its 25th anniversary with special 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?
		2nd Annual Optimising Orphan Drug Development Conference
		VII International Conference on Rare Diseases and Orphan Drugs (ICORD)
		Rare Cancers Conference: Improving the Methodology of Clinical Research
		International Congress on Research of Rare and Orphan Diseases
		Second ASID Congress of the African Society for Immunodeficiencies
		Genomic Disorders 2012
		The Fourth BHD Symposium for Birt-Hogg-Dubé syndrome
		13th International Conference on Neuronal Ceroid Lipofuscinosis and 1st Worldwide Meeting of Batten Disease Int'l Alliance
		International Symposium on Hepatic Glycogen Storage Diseases
		Fourth International Meeting on Primary Central Hypoventilation Syndromes
		Myomatrix 2012 Conference
		CILIA 2012 - Cilia in Development and Disease
		6th European Conference on Rare Diseases & Orphan Products
		10th International primary hyperoxaluria workshop
		European Human Genetics Conference 2012
		First International Symposium on the Ehlers-Danlos Syndrome
		3rd Pan-European Conference on Haemglobinopathies and Rare Anaemias: Towards the Future
		10th Asia-Pacific Conference on Human Genetics
		8th International Prader-Willi Syndrome Conference
	Press & Publications
		New monograph from the European Respiratory Society focuses on orphan lung diseases
		Rare diseases in an emergency setting
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