OrphaNews Europe


OrphaNews Europe : 16 May 2007

	Editorial
		Orphanet is entrusted with the revision of the international classification of rare diseases


	Task Force Update



	EU Policy News
		EU Parliament gives green light to stem cell and other Advanced Therapies Regulation
		A European registry for human embryonic stem cell lines is to be launched by the Commission
		Call for readers' comments on the Working Document on personal health data processing for electronic health records


	National & International Policy Developments
		Results of Italy's call for proposals on rare diseases


		Other European news
			Online access to presentations made at the ESH-EBMT Euroconference on Biobanking, 9 March 2007

		Other International News
			Results of CORD’s 1st Canadian Conference on Rare Disorders and Orphan Products Policy


	Ethical, Legal & Social Issues
		ESHRE Task Force on Ethics and Law 12: an article on oocyte donation for non-reproductive purposes
		A UN Global Forum demonstrates how technological advances are helping to bring disability into the mainstream


	EU Project Follow-up
		The NeuroNE NoE: Pharmaxon develops 3 RD programmes for the NoE


	Orphanet News
		The Orphanet Germany Yearbook is launched in Bonn
		New Texts
			New Orphanet Journal of Rare Diseases publications

		New Research Projects open for Recruitment



	New Syndromes
		Osteopoikilosis, short stature and intellectual deficiency : a new syndrome associated with a 12q14 microdeletion
		Deafness and masculine sterility are caused by a 15q15.3 deletion
		A novel intellectual deficiency syndrome is associated with a microdeletion on the 15q24 region
		Severe intellectual deficiency associated with epilepsia in 2 sisters


	New Genes
		Loss of expression in T-box transcription factor EOMES leads to pronounced microcephalia by delayed motor growth & hypotonia
		Variants in NALP1 gene are associated with different vitiligo-associated auto-immune diseases
		The absence of CHFR1 and CHFR3 genes increases the risk of developing atypical hemolytic and uremic syndrome
		A recurrent mutation in the MED12 gene identified in families affected by Opitz-Kaveggia syndrome
		Leucoencephalopathy associated with a lactate elevation is due to aspartyl-tRNA synthetase deficiency
		TREX1 mutations causing dominant forms of chilblain lupus and Aicardi-Goutieres syndrome
		Shwachman-Bodian-Diamond syndrome (SBDS) gene mutations cause Sedaghatian-type spondylometaphysial dysplasia (SMD)


	Research in Action

		Fundamental Research
			The JARID1C gene, implicated in X-linked intellectual deficiency, encodes a new demethylase of the H3 histone
			Huntington’s disease-like 2 is associated with CUG repeat-containing RNA foci
			Antioxidants increase the lifetime of neurofibromatosis type 1 model fruit flies
			Absence of diacylglycerol kinase delta could be associated with epilepsia in humans

		Clinical Research
			A new risk factor in schizophrenia identified due to an association already known with the DISC1 gene
			An intronic mutation in RB1 responsible for a familial form of retinoblastoma
			Two thirds of nephrotic infantile syndromes are explained by mutations in just 4 genes
			G6PD deficiency protects hemizygous males against malaria but not heterozygous females
			672 databases on human mutations grouped together on the same website

		Therapeutic Approaches
			Stat5 constitutive activation restores the SMN deficit observed in spinal muscular atrophy
			The mutant Huntingtin protein sequesters a urea cycle regulator


	Patient Management and Therapy
		Cluster headache treated by electrode implantation in the sub-occipital region
		Optic Pathway Gliomas in neurofibromatosis-1 : controversies and recommendations


	Orphan Drugs
		Six EMEA orphan designations for April 2007
		EMEA reports its first accelerated assessment for an orphan drug
		A new treatment for genetic disorders caused by nonsense mutations
		Gleevec® shows favourable results for primary gastrointestinal stromal tumour at a NIH trial
		A new pharma alliance to develop plasma-based orphan drugs


	Grants
		ELA Research Foundation call for research proposals 2007


	Partnersearch, Job Opportunities
		Italy: Call for Partnerships on Rett syndrome and other intellectual impairment-related disorders


	News from the Patients' Associations
		Eurordis 10 years on: continuing to meet the international challenges of patients' needs in Europe
		Patients' information leaflets on genetic testing by EuroGentest


	Courses & Educational Initiatives



	What's on Where?
		Annual workshop 2007 - Organized by: Quebec Association of Genetic Counsellors (QAGC)
		Ethics Matters: 18th Canadian Bioethics Society Conference & 3rd International Conference on Clinical Ethics and Consultation
		European Human Genetics Conference 2007
		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
		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
		Defending the Genetic Supermarket: The Law and Ethics of Selecting the Next Generation
		Tic Talk : Living with Tourette Syndrome - A 9-year-old boy's story in his own words
		European Commission- European Science and Technology Observatory
		Steps to Independence - Teaching Everyday Skills to Children with Special Needs, 4th Edition

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