OrphaNews Europe


OrphaNews Europe : 21 February 2007

	Editorial
		A welcome initiative for the French Rare Disease community:


	Spotlight on...
		Ducking the 'Doughnut Hole': the U.S. Rare Disease Health Cover Dilemma


	National & International Policy Developments

		Other European news
			HAL: a new open archive initiative for international scientific production


	Research in Action

		EU project focus
			AnEUploidy: a European project for understanding molecular trisomy and monosomy mechanisms

			Welcome to MYOAMP: a European project for Duchenne muscular dystrophy

		New diseases & syndromes
			Cardiomyopathy and renal anomalies in two brothers
			Phenotypical variability between a mother and her daughter affected by the same 4q34qter deletion


		New genes
			PALB2 : a third mutated gene in Fanconi Anemia and in familial forms of breast cancer
			A loss of calcium channel type L function could be the cause of Brugada syndrome

		New fundamental research
			Regulatory aspects of the SHOX gene are absent in patients affected by dyschondrosteosis
			Meckel-Gruber syndrome: the MKS1 and MKS3 proteins are necessary for ciliogenesis
			Blackfan-Diamond anemia: ribosome biogenesis is altered in patients’ cells
			Hypoalphalipoproteinemia corrected by an adenoviral vector in mice
			The G6PT human transporter gene corrects metabolic and myeloid abnormalities in glycogen storage disease type Ib mice
			Intracellular QBP1 administration suppresses in drosophila the toxicity of proteins with glutamine expansions
			Improvement of cognitive functions by enzymatic replacement therapy in mice with MPS 7

		New clinical research
			Lentiviruses in the service of cellular therapy for Duchenne muscular dystrophy
			Fabry disease: the hematopoietic progenitors expressing alpha-galactosidase A restore lost enzymatic activity
			The expression of FRDA genomic locus corrects the phenotype of Friedreich’s ataxia patients’ cells
			Large-scale hybridization of probes on genomic DNA represents a new tool for genetic diagnosis
			Sotos Syndrome: pure duplication of the 15q26-qter region in a patient
			Wegener granulomatosis: intense agricultural activity is associated with a general development of the disease
			A partial loss of STAR function associated with a mild form of congenital lipoid adrenal hyperplasia
			New Clinical Trials registered by Orphanet

		New therapeutic & diagnostic approaches
			A high mortality rate following the replacement of the tricuspid valve in young children
			The third partial graft of the face has been performed in France
			Down Syndrome: socio-economical inequalities confronted by prenatal diagnosis
			A new cellular diagnostic test is available in the USA

		Genetic testing
			Monitoring Standards for Molecular Genetic Testing in the UK, Netherlands, and Ireland
			US Genetics & Public Policy Center attacks the FDA for its “inequitable and inadequate” regulation of genetic tests


	Orphan Drugs

		New designations & authorisations in Europe
			European Marketing Autorisation for Inovelon®
			European extension for an orphan drug in the treatment of renal cancer
			Tarceva® is given European approval for cancer of the pancreas
			Approval request for Thalidomide Pharmion® in untreated multiple myeloma


	Ethical, Legal & Social Issues

		Ethics
			Bioethics law: 1st nationwide survey of opinion on bioethics issues in France is published

		Social issues
			Launch of the 1Million4Disability campaign: equal rights for European disabled citizens


	News from the Patients Associations

		Eurordis update
			A new Charter for patient-sponsor collaboration in RD clinical trials

	Courses & Educational Initiatives

		Courses
			EuroStemCell clinical workshop: towards clinical trials in muscular dystrophy
			A short course in ethics and law of genetics


	Press & Publications

		New books
			The Autoimmune Diseases


	What's on where?

		In March
			Joint Meeting of the Belgisch-Nederlandse Neuromusculaire Studieclub and the German Reference Center for Neuromuscular Diseases

		In April
			12th European Conference on Neurofibromatosis

		In May
			Nuclear Receptor EMBO Conference
			9th European Symposium on the Prevention of Congenital Anomalies
			Newborn Screening and Genetic Testing Symposium
			International MPS Network Conference

		In June
			A Course on Sjogren Syndrome diagnosis and therapy for healthcare professionals and a Conference for patients with the syndrome

		In September
			Rare Diseases Research: Building on Success - a European Conference

		In October
			8th EPPOSI Partnering Workshop on Orphan Drugs

		In November
			4th European Conference on Rare Diseases (ECRD 2007)

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