OrphaNews Europe


OrphaNews Europe : 14 June 2007

	Editorial
		OECD issues quality assurance guidelines for genetic testing


	Task Force Update



	Spotlight on...
		Latin America and the Caribbean could play key role in search for rare disease solutions


	EU Policy News
		EESC calls for enhanced access to equal opportunity for the disabled
		EuroGentest solicits feedback for its genetic counseling recommendations


	National & International Policy Developments
		Switzerland adopts orphan medicine legislation similar to EU regulations
		France approves 29 additional rare disease centres of reference


	Orphanet News

		New Texts
			New Orphanet Journal of Rare Diseases publications


		New Research Projects open for Recruitment



	New Syndromes
		Angioma serpiginosum with oesophageal papillomatosis is an X-linked dominant condition that maps to Xp11.3-Xq12
		Persistent placoid maculopathy: a new clinical entity


	New Genes
		RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development
		Matthew-Wood Syndrome Is Caused by Truncating Mutations in the Retinol-Binding Protein Receptor Gene STRA6
		Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility
		A new CDG syndrome sub-type caused by COG8 deficiency
		Gene linked to Fanconi anemia complementation group I identified
		A mutation in FGFR1 linked to isolated hypogonadotropic hypogonadism


	Research in Action

		Fundamental Research
			Astrocytes are responsible for motor neuron death in amyotrophic lateral sclerosis
			OGG1 initiates age-dependent CAG expansion in somatic cells
			An imbalance between the number of neurons and astrocytes contributes to cognitive deficit in Noonan Syndrome
			NOTCH3 CADASIL-associated mutations appear to create novel pathogenic roles
			The Shwachman-Diamond syndrome protein is essential to the maturation of ribosomes

		Clinical Research
			Secondary mutations in LAMB3 restore phenotype in patients with junctional epidermolysis bullosa
			New susceptibility loci for Crohn disease
			New clinical data for children afflicted with Brugada syndrome
			Recommendations for conducting systemic vasculitis clinical studies and/or trials

		Gene Therapy
			Chaperone proteins reduce proteic aggregates in Huntington disease rat models

		Therapeutic Approaches
			PTC124 allows for the production of functional proteins despite the presence of nonsense mutations
			Cyclin-dependent kinase inhibition is beneficial in mice with systemic lupus


	Patient Management and Therapy
		Butyrate reduces GPI deficiency and treats epilepsy in one patient


	Orphan Drugs
		Two companies collaborate to develop rare disease medicines


	News from the Patients' Associations
		Patient groups in attendance at Romanian medical conference


	What's on Where?
		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
		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
		Neurology of hereditary metabolic diseases of children : 3rd Edition

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