OrphaNews Europe


OrphaNews Europe : 30 October 2007

	Editorial
		The 2007 EPPOSI Workshop Tackles the Reality of Orphan Medicines


	National & International Policy Developments
		A bill for mandatory free neonatal rare disease screening in Italy
		The Netherlands contemplates implementing preconception programme
		France legally recognises genetic counselling as a profession

		Other European news
			Austria has top health system, with Holland and France close behind
			Foetal alcohol syndrome guidelines issued for professionals
			Expanded Human Gene Mutation Database released

		Other International News
			Rare disease proponents amongst new NIH neurology council members


	EU Project Follow-up
		AnEUploidy seeks patients for two projects


	Orphanet News
		Orphanet a temporary victim of its own success

		New Texts
			New Orphanet Journal of Rare Diseases publications


	New Syndromes
		Developmental delay and intellectual deficiency in two children with 14q11.2 deletions


	New Genes
		Mutations in a member of the nonsense-mediated mRNA decay complex cause X-linked syndromic and nonsyndromic mental retardation
		Severe tumoral calcinosis can be due to a homozygous missense mutation in KLOTHO
		Two C syndrome patients have mutations in an immunoglobulin superfamily gene
		Wolfram syndrome type 2 has ERIS mutation
		A Kabuki syndrome patient with a partial deletion in gene C20orf133


	Research in Action

		Clinical Research
			Long arm interstitial deletions in chromosome 18 are linked to language delays
			Luteinizing hormone beta mutation causes sterility in women
			DAX1 could be behind isolated 46,XY gonadal dysgenesis
			Aicardi-Goutières syndrome clinical and molecular phenotypes

		Therapeutic Approaches
			Inhibition of MAPKinases signalling reduces craniostenosis in Apert syndrome mouse models


	Patient Management and Therapy
		Cushing syndrome diagnostic tests for paediatric patients
		Turner syndrome growth hormone treatment normalises height in infants and toddlers
		Long-QT syndrome type 3 mexiletine response predictive test developed
		Juvenile dermatomyositis patients can benefit from rituximab


	Orphan Drugs
		Italy-based pharmaceutical Recordati purchases Orphan Europe
		Sixteen EMEA orphan drug designations for October
		Negative opinion adopted for extension of miglustat to treat Niemann-Pick type C


	What's on Where?
		International Conference on Rare Diseases and Orphan Drugs
		Medicines For Rare Diseases: An Opportunity for Patients, Science and Industry
		Euro-Ataxia AGM 2007
		Second World Congress on Hypospadias and Disorders of Sex Development
		2nd Pan Arab Human Genetics Conference
		First Egyptian-German Workshop on Disorders of Sex Development
		4th European Conference on Rare Diseases (ECRD 2007)
		15th Annual Meeting, Int'l ALS/MND Associations Alliance & 18th ALS/MND Int'l Symposium
		Lowe Syndrome Second International Symposium
		EuroGentest Workshop: Towards Accreditation-Managing the Human Side of Change
		9th European Congress of Neuropathology
		Fourth International Neuroacanthocytosis Symposium: Bridging Clinical and Basic Aspects
		6th World Rett Syndrome Congress


	Press & Publications
		An epidemiologic survey of rare diseases in disabled children
		Aging with haemophilia

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