OrphaNews Europe


OrphaNews Europe : 28 June 2007

	Editorial
		EC workshop takes stock of future rare disease research needs


	Spotlight on...
		Brains for Brain


	EU Policy News
		Advanced therapies regulation approved by Council of Ministers

		DG SANCO
			DG SANCO updates rare diseases section


		DG Research
			CORDIS FP7 goes multilingual

		EMEA
			New EMEA database tools improve communication and coordination


	National & International Policy Developments
		Spanish Pharmaceutical body proposes rare disease initiative
		Switzerland adopts legislation regulating human genetic analysis

		Other European news
			French rare disease helpline received almost 7000 requests in 2006

		Other International News
			US states react to veto of federal stem cell research bill
			New site for genetic diseases in the US
			US Parents fear dwindling resources for Down syndrome patients


	Ethical, Legal & Social Issues
		Survey underscores role of professionals in disclosing genetic information


	Orphanet News

		New Research Projects open for Recruitment



	New Genes
		A dysfunction in SLC4A11 borate transporter gene explains Harboyan syndrome
		IFT80 and cilia implicated in Jeune syndrome
		RRM2B mutations in severe forms of mitochondrial DNA depletion
		A mutation in PITPNM3 explains an autosomal dominant form of cone dystrophy
		Reduced NFIA expression contributes to a CNS malformation syndrome


	Research in Action

		Fundamental Research
			Huntingtin interacting proteins are genetic modifiers of neurodegeneration

		Clinical Research
			A distinction is made between sporadic forms of ALS and those with SOD1
			A correlation is made between a partial deletion of the long arm of chromosome 18 and speech delay
			Copy-number variation of the gene coding complement component C4 predisposes for SLE
			Long-QT syndrome is over diagnosed
			C-terminal titin recessive mutations cause a novel early-onset myopathy with fatal cardiomyopathy
			Low FCGR3B copy number has a key role in the development of systemic autoimmune illnesses


	Patient Management and Therapy
		Selective iron chelation improves neurological functioning in Friedreich ataxia
		Thymus transplantation in 44 patients with DiGeorge anomaly
		Phenylacetate and benzoate improve survival for urea-cycle disorder patients


	Orphan Drugs
		Five EMEA orphan designations for May 2007
		Marketing authorisation recommended for Increlex® for primary IGF-1 deficiency
		Genzyme gains exclusive rights to clofarabine
		Orphan Europe acquires world-wide rights to Cystadane®


	News from the Patients' Associations
		Hungary's umbrella provides shelter for rare disease patients


	Courses & Educational Initiatives
		Human Embryonic Stem Cell Training Programme
		Neonatal brain injury and imaging


	What's on Where?
		1-day Conference: Clinical Research for Rare Diseases: Opportunities, Challenges and Solutions
		Rare Diseases Research: Building on Success - a European Conference
		4th Stem Cell Gene Therapy Conference
		EuroGentest Workshop on internal auditing for genetic testing laboratories
		8th EPPOSI Partnering Workshop on Orphan Drugs
		3rd International Meeting on Congenital Disorders of Glycosylation
		Biology and clinical applications of cord blood cells
		4th European Conference on Rare Diseases (ECRD 2007)
		15th Annual Meeting, Int'l ALS/MND Associations Alliance & 18th ALS/MND Int'l Symposium


	Press & Publications
		Two reviews assess rare disease drugs in Europe

<----back