Fwd: Orphanews Europe 16 November 2011

[José Antonio Navarro]

Hola.

Os reenvío el último boletín Orphanews Europe por si os resultara de interés. Recordar que sólo se distribuye en inglés.

Saludos a todos.

---------- Forwarded message ----------
From: <orphanew...@orpha.net>
Date: 2011/11/16
Subject: Orphanews Europe 16 November 2011
To: jana...@yahoo.es

OrphaNews Europe : 16 November 2011
	Editorial
		Recommendations for Centres of Expertise adopted unanimously by the European Union Committee of Experts on Rare Diseases
	Spotlight on...
		NIMBL ... Investigating the genetic and cellular basis of Nuclease Immune Mediated Brain and Lupus-like conditions
	EU Policy News
		Clinical Trials Directive again comes under fire from research organisations urging reform
		DG SANCO
			Mid-Term Evaluation of the EU Health Strategy 2008-2013 final report encompasses rare diseases in its scope
		DG Research
			E-Rare announces projects selected for funding from 2011 Joint Transnational Call in its first newsletter
		EMA
			Database of clinical studies involving children available via the EMA
	National & International Policy Developments
		Final report of the Recommendations and Proposed Measures for a Belgian Plan for Rare Diseases submitted to the Health Ministry
		UK health services to provide assessments for off-label medicinal use
		Switzerland moves forward project to develop national strategy for reimbursing rare disease medicinal products
		Other International News
			Human genetics congress provides venue to discuss technology advances and impact on rare disease patients and caregivers
	Orphanet News
		New rare disease emergency guidelines in French and Portuguese
	New Syndromes
		Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions
		Microtriplications of 11q24.1 are responsible for a highly recognisable phenotype
		Leber congenital amaurosis as first sign of a syndrome in the peroxisome biogenesis disorder spectrum with PEX1 mutation(s)
	New Genes
		Choroideremia: a dominant mutation in RPE65 can cause the disease
		Knobloch syndrome: ADAMTS18 proposed as a second KS gene
		Kearns-Sayre syndrome: RRM2B mutations found in one adult patient
		Leber congenital amaurosis: ALMS1, CNGA3, and MYO7A are three novel disease causing genes
		Methylmalonic acidemia-homocystinuria: inborn error of folate metabolism due to MTHFD1 mutations at cause in an infant
		Mitochondrial myopathy with reversible cytochrome C oxidase deficiency: two families have mutations in TRMU
		Fatal infantile hypertrophic cardiomyopathy: mutations in NDUFAF1 (a mitochondrial complex I assembly factor) found in one case
		Nonsyndromic mitochondrial sensorineural deafness: a mutation in mitochondrial tRNA His gene causes late-onset disease
		Familial isolated clubfoot: PITX1 haploinsufficiency responsible over three generations in a family
		Monocytopenia with susceptibility to infections: the syndrome is the result of GATA2 mutations
		Adrenocortical tumours: somatic alterations of AXIN2 identified in some patients
	Research in Action
		Fundamental Research
			Mucopolysaccharidosis type IIIB: induced pluripotent stem cells generated from young patient fibroblasts as a model
			Severe laminopathy diseases: mechanism and prevention of accumulation of unrepairable DNA damage in cultured fibroblasts
			Huntington disease: novel mechanism of Hsp70 chaperone-mediated prevention of polyglutamine aggregates in a cellular model
			Neurofibromatosis type 1: mice lacking Nf1 in osteochondroprogenitor cells display skeletal dysplasia similar to patients
			Holoprosencephaly: Noggin null allele mice exhibit a microform of the disease
			LGMD2H: common missense mutation D489N in TRIM32 leads to loss of the mutated protein in knock-in mice
		Clinical Research
			Idiopathic pulmonary fibrosis: efficacy of a tyrosine kinase inhibitor in a phase 2 trial
			Beta-thalassaemia intermedia: favorable changes with decitabine in a pilot study
			Haemophilia B: enhanced pharmacokinetic properties of a glycoPEGylated recombinant factor IX in a first human dose trial
			Persistent hyperinsulinaemic hypoglycaemia of infancy: lanreotide acetate may improve quality of life
			ACTH-dependent Cushing syndrome: mitotane, metyrapone, and ketoconazole combination as an alternative to rescue adrenalectomy
			Genetic skeletal disorders: 2010 revision of the Nosology and Classification
			Adenosine deaminase deficiency: myeloid dysplasia and bone marrow hypocellularity are associated with the disease
			Congenitally uncorrected transposition of the great arteries: neuropsychological assessment and brain imaging of adolescents
			Congenital hypothyroidism: memory weakness may be linked to compromised hippocampal development in children and adolescents
		Gene Therapy
			Autosomal recessive dystrophic epidermolysis bullosa: proof of principle for ex vivo gene therapy in dogs
			Duchenne muscular dystrophy: improvement of cardiac fibrosis in dystrophic mice by rAAV9-mediated microdystrophin transduction
		Therapeutic Approaches
			Spinal muscular atrophy: inter- and intra-patient variability in cell response to drugs that upregulate SMN expression
			Epidermolytic epidermolysis bullosa: therapeutic perspectives with specific siRNA and chemical chaperones
	Patient Management and Therapy
		Turner syndrome: standardised multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women
		Idiopathic pulmonary fibrosis: international evidence-based guidelines for diagnosis and management
		Three new Clinical Utility Gene Cards available
	Orphan Drugs
		12 positive opinions recommending orphan designation at the October COMP meeting including a first for Leigh syndrome
		What is the impact of orphan drugs on premature mortality?
		New thalassaemia product approved in the USA and increased warnings for renal cell carcinoma product
	Grants
		Applications for rare pulmonary disease award to open soon
	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
		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?
		Sixth European Workshop on Immune-Mediated Inflammatory Diseases
		6th Eastern European Conference for Rare Diseases and Orphan Drugs
		Sanfilippo Foundation Switzerland International Congress
		2nd Annual Optimising Orphan Drug Development Conference
		Rare Cancers Conference: Improving the Methodology of Clinical Research
		VII International Conference on Rare Diseases and Orphan Drugs (ICORD 2012)
		International Congress on Research of Rare and Orphan Diseases
		Second ASID Congress of the African Society for Immunodeficiencies
		13th International Conference on Neuronal Ceroid Lipofuscinosis and 1st Worldwide Meeting of Batten Disease Int'l Alliance
		Fourth International Meeting on Primary Central Hypoventilation Syndromes
		CILIA 2012 - Cilia in Development and Disease
		6th European Conference on Rare Diseases & Orphan Products
		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
	Press & Publications
		Faith and hope: one man’s response to a fatal rare disease
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