Newsletter

				Newsletter
OrphaNews Europe : 21 November 2007

	Editorial
		Commission Communication on Rare Diseases now available for consultation


	Spotlight on...
		CIBERER Spain's major new scientific cooperative for rare disease research


	EU Policy News
		Rare diseases included in new European health strategy
		Networks of Excellence seek permanence

		DG SANCO
			DG Sanco rare disease events page updated


	National & International Policy Developments

		Other European news
			Genetic test communication under the microscope in the UK
			Results of genetic test validity and utility evaluation released

		Other International News
			The Nobel Prize for knock-out mouse researchers
			Taiwan broadcasts rare disease concerns to the general public
			Genetic medicine handbook created for Australian physicians


	EU Project Follow-up
		Introducing DYSCERNE: A European Network of Centres of Expertise for Dysmorphology


	Orphanet News

		New Texts
			New Orphanet Journal of Rare Diseases publications

		New Research Projects open for Recruitment



	New Genes
		Permanent neonatal diabetes has insulin gene mutation as cause
		Two children with herpes simplex encephalitis have mutations in a Toll family receptor
		Schnyder crystalline corneal dystrophy may be due to mutations in UBIAD1 gene


	Research in Action

		Clinical Research
			Amyotrophic lateral sclerosis: a new susceptibility gene found
			Antiphospholipid antibodies (aPLA): P-selectin glycoprotein ligand-1 VNTR polymorphisms and risk of thrombosis
			Asthma and hereditary allergies are frequent in classic and hypermobile forms of Elhers-Danlos syndrome
			Testing for autoantibody presence can predict cancer risk in patients with myositis

		Gene Therapy
			Batten disease mouse models have improved motor functioning and survival outcomes via pre-symptomatic gene therapy
			Gene therapy in limb girdle muscular dystrophy type 2D mouse models yields long-term skeletal muscle protection

		Therapeutic Approaches
			Fragile X symptoms reduced in mice by inhibiting p21-activated kinase


	Patient Management and Therapy
		Current spinal muscular atrophy research and practices delineated
		Neurofibromatosis type 1: genetic counselling practice recommendations
		Friedreich's ataxia: increasing idebenone dosage improves neurological functioning
		For sickle cell anaemia, hematopoietic stem cell transplantation improves survival
		Gaucher disease type 1: miglustat maintains the condition of patients stabilised via enzyme therapy
		Primary amyloidosis: High dose chemotherapy plus stem cell transplantation do not improve survival


	Orphan Drugs
		Seven EMEA orphan drug designations for November
		Genzyme receives Japanese marketing approval for Elaprase
		Change in Storage Conditions for Humate-P approved by FDA


	News from the Patients' Associations
		News update: Marathoner goes all the way for ataxia telangiectasia


	Courses & Educational Initiatives
		Clinician scientist fellowship programme


	What's on Where?
		4th European Conference on Rare Diseases (ECRD 2007)
		15th Annual Meeting International ALS/MND Associations Alliance 18th ALS/MND International Symposium
		CDBI Seminar on Predictivity, Genetic Tests and Insurance
		2nd Annual Rare Disease Leadership Summit
		East Meets West in Rare Diseases
		Lowe Syndrome Second International Symposium
		EuroGentest Workshop: Towards Accreditation-Managing the Human Side of Change
		Rare Diseases: Channels and Transporters
		ICORD 4th International Conference on Rare Diseases and Orphan Drugs
		14th International Conference on Prenatal Diagnosis and Therapy
		Fourth International Neuroacanthocytosis Symposium: Bridging Clinical and Basic Aspects
		Genetic Alliance Annual Conference 2008
		6th World Rett Syndrome Congress


	Press & Publications
		Interesting rare disease reading in the British Paediatric Surveillance Unit Annual Report

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