OrphaNews Europe


OrphaNews Europe : 28 March 2007

	Editorial
		Steps have been taken to develop a National Plan for Rare Diseases in Spain


	EU Policy News

		DG Enterprise
			Consultation on a draft Guideline on aspects of the application of Article 8(2) of Regulation (EC) No 141/2000 on orphan drugs
			The biopharmaceutical industry welcomes the Commission's draft guideline on market exclusivity for OMPs Regulation


	Ethical, Legal & Social Issues
		The UK’s HFEA authorises egg donations for biomedical research


	EC Project Follow-up
		STEM-HD: 'Stem cells for Therapeutics and Exploration of Mechanisms in Huntington Disease' , a research project


	Orphanet News

		New Texts
			Orphanet Journal of Rare Diseases

		New Research Projects open for Recruitment
			An international multicentric trial in Germany and France: Fabry Disease
			A national monocentric trial in Denmark : MLD


	New Syndromes
		Hypertelorism, facial dysmorphism, severe myopia, light intellectual deficiency and bone fragility: a new syndrome ?
		A recessive metabolic bone disorder differing from the conventional form of osteogenesis imperfecta
		Pseudoxanthoma elasticum-like phenotype with cutis laxa associated with multiple coagulation factor deficiencies


	New Genes
		BCS1L mutations in Bjornstad syndrome
		Two new loci associated with autism development risk
		Platelet factor 4 silencing: a major event in the genesis of multiple myeloma


	Research in Action

		Fundamental Research
			Rett syndrome: British researchers corrected neurological defects in Rett model mice
			Type I spino-cerebellar ataxia is corrected in the mouse by overexpression of an ataxin-1 paralog
			Tcra locus integrity and the maturation of double positive thymocytes are disturbed in ataxia-telangiectasia

		Clinical Research
			The shortening of telomere length is associated with early tumour development in Li-Fraumeni syndrome
			Anomalies in the radius extend the Goldenhar syndrome spectrum
			Digenic transmission explains the phenotypical variability in families affected by hypogonadotrophic hypogonadism
			Hypogonadotrophic hypogonadism: anti-pituitary antibodies against Gonadotrophin-secreting cells
			Sequencing benefits of dystrophin in the Duchenne but not in the Becker muscular dystrophy
			Genotype/phenotype correlation in 325 patients affected with tuberous sclerosis
			Rhabdomyosarcoma : uniparental disomy and HRAS gene mutations

		Stem Cells
			Cells derived from adult human pericytes are able to generate new muscular fibres

		Therapeutic Approaches
			Correction of cardiac and respiratory functions in Pompe mice
			Smith-Lemli-Opitz syndrome : a cholesterol-rich diet corrects retinopathies in rats
			A pharmacological treatment increases the GAA enzymatic activity in fibroblasts of certain patients with Pompe disease


	Patient Management and Therapy
		Kawasaki disease: adding corticosteroids to current treatment is not beneficial


	Orphan Drugs
		Four positive opinions on OMP designation
		EMEA reports a record number of applications and reduced assessment times in 2006
		EUSA Pharma Inc is taking over the biopharmaceutical orphan drugs company, OPi
		Nexavar® : an orphan drug for kidney cancer in Europe and the US now also to be used for liver cancer
		FDA Approval for Soliris (eculizumab) for treatment of paroxysmal nocturnal hemoglobinuria (PNH)
		Orphan Diseases Drug Development Weekly : a new orphan drugs e-journal


	News from the Patients' Associations
		EURORDIS' contribution to the Discussion Document on EU Health Strategy: at the cutting edge of future health policy
		First Romanian Prader-Willi Syndrome Conference - 21-23 June 2007
		International Painful Bladder Syndrome Survey for diagnosis & treatment


	Courses & Educational Initiatives
		European Summer Institute in Statistical Genetics - Liège, Belgium
		2-day CMGS Best Practice course on the appropriate classification and reporting of unclassified variants – Manchester, UK
		8-9 May 2007 : A short course in ethics and law of genetics - Manchester, UK


	What's on Where?
		Seminar in Research Ethics Committees as political technologies of trust - part of the Cambridge Bioethics Forum series
		10th Annual Meeting of the American Society of Gene Therapy (ASGT)
		European Human Genetics Conference 2007
		International Society for Stem Cell Research (ISSCR) 5th annual meeting
		Euro-HD Congress – European Huntington Disease Network
		6th International Myotonic Dystrophy Consortium Meeting
		Rare Diseases Research: Building on Success - a European Conference
		12th International Congress of the World Muscle Society
		8th EPPOSI Workshop on Partnering for Rare Disease Therapy Treatment
		4th European Conference on Rare Diseases (ECRD 2007)
		Myology 2008: 3rd Conference on Myology


	Press & Publications
		Patient Rights in the EU – Czech Republic & Denmark
		European Forum for Good Clinical Practice Report on Good Clinical Practice Principles
		A Statistical Approach to Genetic Epidemiology: Concepts and Applications

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