Fwd: Orphanews Europe 19 October 2011

[José Antonio Navarro]

Os reenvío el último boletín de OrphaNews, por si alguna de las noticias contenidas fuera de vuestro interés. Simplemente recordar que sólo se distribuye en inglés.

Saludos.

OrphaNews Europe : 19 October 2011
	Editorial
		EUCERD/EMA workshop drives forward a public-private partnership model for rare disease registries
	EUCERD update
		New EUCERD report takes stock of the pilot European reference networks in the field of rare diseases
	EU Policy News
		White paper finds European biomedical research doing well – recommendations echo rare disease research findings
		Nordic researchers' Open Letter draws attention to Data Protection law changes potentially harmful to rare disease research
		EMA
			EMA invites expressions of interest for membership to its Committee for Orphan Medicinal Products and other committees
			New database of European experts available from the EMA provides information on declarations of interest
			EMA’s Committee for Orphan Medicinal Products announces initiative to publish prevalence information
	National & International Policy Developments
		Newborn screening at Italy’s Santa Croce di Fano hospital to increase from three to 50 rare disorders
		Other European news
			UK Sjogren syndrome registry provides lessons for rare disease registry design
			First UK tissue bank specifically for brain tumours launches in Scotland
		Other International News
			Egypt boasts world’s largest newborn screening laboratory
			New computerised family history tool helps health professionals to improve prenatal screening process for inherited conditions
	Ethical, Legal & Social Issues
		Parents of children with disorders of sexual development seek a sense of harmony
	Orphanet News
		New Texts
			New Orphanet Journal of Rare Diseases publications
	New Syndromes
		Autosomal-dominant adermatoglyphia caused by a mutation in a skin-specific isoform of SMARCAD1
		Pyoderma gangrenosum, acne, and suppurative hidradenitis: a new autoinflammatory syndrome
		X-linked intellectual deficit with alacrima and achalasia
		A nonsyndromic severe myopia with variable expressivity of cataract and vitreoretinal degeneration linked to a LEPREL1 mutation
		A new mitochondria-related disease showing myopathy with episodic hyper-creatine kinase-aemia
	New Genes
		Hypomyelinating leukodystrophies: POLR3A, encoding a catalytic subunit of RNA polymerase Pol III, is mutated in recessive forms
		Familial Parkinson disease: EIF4G1 mutations cause familial autosomal dominant form
		Autosomal recessive nonsyndromic intellectual deficit: ST3GAL3 as new causal gene
		Familial biparental hydatidiform mole: implication of c6orf221
		Congenital cataract, corneal opacity, and developmental glaucoma: homozygous mutations in PXDN responsible
		Narcolepsy with cataplexy: a missense mutation in myelin oligodendrocyte glycoprotein (MOG) found in a large family
		Combined malonic and methylmalonic aciduria: ACSF3, encoding a putative methylmalonyl-CoA and malonyl-CoA synthetase, at cause
		Familial isolated arrhythmogenic right ventricular cardiomyopathy: titin variations responsible in some families
		Noonan-like syndrome: disruption of MYST4 causes short stature, blepharoptosis, and attention deficit hyperactivity disorder
		Oligodendroglioma: somatic mutations in CIC and FUBP1 suggest a critical role for these genes
		Meningioma: common variation at 10p12.31 near MLLT10 influences disease risk
		Hepatocellular carcinoma: somatic inactivating mutations in ARID2
	Research in Action
		Fundamental Research
			Cystic fibrosis: rescue of ΔF508-CFTR trafficking via a GRASP-dependent unconventional secretion pathway
			X-linked adrenoleukodystrophy: patient-derived iPSCs recapitulate the key events of disease development
			Delta-beta thalassaemia and HPFH: identification of a functional element necessary for fetal haemoglobin silencing
			Amyotrophic lateral sclerosis: astrocytes from familial and sporadic patients are toxic to motor neurons
			Centronuclear myopathy: mice lacking microRNA 133a develop dynamin 2–dependent disease
			Pure autonomic failure: decreased vesicular uptake appears to underly the accelerated loss of intra-neuronal catecholamines
		Clinical Research
			X-linked adrenoleukodystrophy: efficacy of allogeneic haematopoietic cell transplantation for childhood cerebral disease
			Wiskott-Aldrich syndrome: long-term outcome in 194 patients treated by haematopoietic cell transplantation
			Acquired aplastic anaemia: confirmation of benefit of alemtuzumab-based regimen for allogeneic stem cell transplantation
			Acquired thrombotic thrombocytopenic purpura: safety and efficacy of rituximab with plasma exchange in acute disease
			Myelofibrosis: everolimus as single agent appears safe and effective in a phase 1/2 study
			Friedreich ataxia: idebenone may offer neurological benefit in paediatric patients
			Gliomatosis cerebri: procarbazine and lomustine chemotherapy as a promising option for primary treatment
		Gene Therapy
			X-linked severe combined immunodeficiency: long-term persistence of a polyclonal T cell repertoire after gene therapy
			ADA-deficient severe combined immunodeficiency: long-term immunological recovery and metabolic correction with gene therapy
		Therapeutic Approaches
			Spinal muscular atrophy: new experiments in mouse models confirm promises of SMN upregulation
			Duchenne muscular dystrophy: early treatment with lisinopril and spironolactone preserves cardiac and skeletal muscle in mice
	Patient Management and Therapy
		Sickle cell disease: quality-of-care indicators for children
		Juvenile idiopathic arthritis: 2011 American College of Rheumatology (ACR) recommendations for treatment
		Paediatric rheumatic diseases: European League Against Rheumatism (EULAR) recommendations for vaccination
		Chronic myeloid leukaemia: recommendations from an expert panel for BCR-ABL kinase domain mutation analysis
	Orphan Drugs
		Ethical guidelines to encourage fair distribution of resources for orphan drugs
		CHMP recommends marketing authorisation for several orphan products in July
		FDA grants accelerated approval for atypical hemolytic uremic syndrome treatment
	Courses & Educational Initiatives
		4th International Postgraduate Course on Lysosomal Storage Disorders: Diagnostic Background and Clinical Therapy
		Nursing of Patients with Epidermolysis Bullosa - International Theoretical‐Practical Course
		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 2011 Programme
		EuroGentest Quality Management and Accreditation/Certification of Genetic Testing Workshops
	What's on Where?
		2nd South Caucasian Conference on Rare Diseases and Orphan Drugs
		Rare 2011: The Eurobiomed Meetings on Rare Diseases
		Treat-NMD Global Conference
		Cell Symposia: Autism Spectrum Disorders: From Mechanisms to Therapies
		European Wilson Disease Congress
		Canadian Congenital Anomalies Surveillance Network (CCASN) – 9th Annual Scientific Meeting
		2nd World Orphan Drug Summit
		5th International Workshop on AKU (Alkaptonuria)
		4th European Symposium on Rare Anaemias
		Sixth European Workshop on Immune-Mediated Inflammatory Diseases
		6th Eastern European Conference for Rare Diseases and Orphan Drugs
		Sanfilippo Foundation Switzerland International Congress
		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
		First International Symposium on the Ehlers-Danlos Syndrome
		3rd Pan-European Conference on Haemglobinopathies and Rare Anaemias: Towards the Future
	Press & Publications
		Close encounters of the rare kind: authors offer physicians advice on diagnosing and managing rare diseases
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