Fwd: Orphanews Europe 17 August 2013

[José Antonio Navarro]

---------- Forwarded message ----------
From: <orphanew...@orpha.net>
Date: 2013/8/17
Subject: Orphanews Europe 17 August 2013
To: jana...@yahoo.es

OrphaNews Europe : 17 August 2013
	Editorial
		Commission Decision sets up a new expert group for rare diseases to follow in EUCERD's footsteps
	Spotlight on...
		Cost Action representing European network for congenital Imprinting calls for partners to join them
		Interview
	National & International Policy Developments
		The pursuit of legislation for rare disease patients in China
		Other International News
			Guidance Documents and Recommendations
				Guideline on medicines for the treatment of amyotrophic lateral sclerosis released for a six-month public consultation
			Bioinformatics, Registries and Data Management
				Inside TREAT-NMD Duchenne muscular dystrophy registries: past sucesses and future direction
			Screening and Testing
				Two articles discuss the importance and state of Non-Invasive Prenatal Testing in US
	Ethical, Legal & Social Issues
		Overcoming barriers for nutritional management for individuals with inborn errors of metabolism
		Are the recommendations by ACMG for incidental findings premature?
		Rare Family days- an innovative workshop that reaches out to families with rare disease patients
	New Syndromes
		Identification of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability caused by mutations in TRAPPC11
		Description of a new immunodeficiency syndrome associated with mutations in VPS45 involving impaired neutrophil function and myelofibrosis in infants
		Novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay
	New Genes
		Familial hypocalciuric hypercalcemia type 2 and autosomal dominant hypocalcemia: mutations affecting G-protein subunit α11 (GNA11) identified
		Idiopathic central precocious puberty is caused by heterozygous mutations in MKRN3
		Three studies show that SHORT syndrome is due to heterozygous PIK3R1 mutations
		Severe obesity associated with loss-of-function mutations in SIM1
		Increased risk of multiple system atrophy associated with functionally impaired variants of COQ2
		Autosomal recessive congenital ichthyosis: first evidence of the essential role of CERS3 in human sphingolipid metabolism for the maintenance of epidermal lipid homeostasis
		Acute promyelocytic leukemia: all-trans retinoic acid plus arsenic trioxide may be superior to all-trans retinoic acid plus chemotherapy for patients with low-to-intermediate risk
		Langerhans cell histiocytosis: chemotherapy prolongation improves outcomes
	Research in Action
		Clinical Research
			Metachromatic leukodystrophy: benefits of lentiviral hematopoietic stem cell gene therapy in three presymptomatic patients
			Wiskott-Aldrich syndrome: benefits of lentiviral hematopoietic stem cell gene therapy in three patients
		Gene Therapy
			Spinocerebellar ataxia type 3: lentiviral-mediated overexpression of beclin 1, an autophagy-related protein, mitigates motor and neuropathological deficits in genetic mouse models
			Acute intermittent porphyria: helper-dependent adenoviral liver gene therapy protects against induced attacks and corrects protein folding stress in a murine model
		Therapeutic Approaches
			Duchenne muscular dystrophy: treatment with antioxidants retards the onset of cardiac dysfunction and death in mdx/mTRKO mice
			Dystrophic epidermolysis bullosa: topical application of recombinant type VII collagen incorporates into the dermal-epidermal junction and promotes wound closure
		Diagnostic Approaches
			Sarcoidosis: the use of endosonography (esophageal or endobronchial ultrasonography) compared with conventional bronchoscopy results in greater diagnostic yield
			Two Clinical Utility Gene Cards published in the European Journal of Human Genetic
	Patient Management and Therapy
		Rhabdoid tumors: review on what we have learned so far and future directions
		Fragile X-associated tremor/ataxia syndrome: advances in clinical and molecular understanding
		Neural tube closure defect: recent advances, unsolved questions, and controversies
		Primary amyloidosis: update for treating physicians
		Hermansky-Pudlak syndrome: health care throughout life
	Orphan Drugs
		Regulatory News
			19 positive opinions recommending orphan designation at the July 2013 COMP meeting
		Political and Scientific News
			Report of the International Workshop on exon skipping treatment for Duchenne Muscular Dystrophy held in Netherlands
	Grants
		DEBRA International research grants
		NORD announces seed grants for rare disease research
	Partnersearch, Job Opportunities
		Grantholder position, based in Ispra (Italy), for the establishment of the European Technological Platform on Rare Diseases
	Courses & Educational Initiatives
		Orphan Drug & Rare Disease Seminar: Accelerating access to therapeutic innovation
		2nd International Workshop Rare disease and Orphan drug registries
		European Cytogeneticists Association Courses
		The 1st World Conference on Congenital Disorders of Glycosylation
		International Summer School Rare Disease and orphan Drug Registries
	What's on Where?
		International Symposium on Urea Cycle Disorders (UCD)
		International Congress of Inborn Errors of Metabolism
		Orphan Drugs Summit 2013
		2nd Conference of 'EB-CLINET - Clinical Network of EB Centres and Experts'
		16th International Conference on Behçet's Disease
		2nd International Symposium on Hypothalamic Hamartomas
		EUROPLAN National Conferences Finland
		Second Symposium on ATP1A3 in disease Genotype/Phenotype Correlations, modelling and identification of potential targets for treatment
		1st Iberoamerican Conference on Rare Diseases
		EUROPLAN National Conferences Poland
		2nd International Expert Meeting on Congenital Melanocytic Nevi and Neurocutaneous Melanocytosis
		HGV2013: 14th International Meeting on Human Genome Variation and Complex Genome Analysis
		Mitochondrial Disease: Translating biology into new treatments
		US Conference on Rare Diseases & Orphan Products: The New Era in Healthcare
		The 10th Balkan Congress of Human Genetics and 2nd Alps Adria Meeting on Human Genetics (AABC2013)
		Orphan Drugs and Rare Diseases
		Orphan Drug & Rare Disease Seminar “Accelerating access to therapeutic innovation”
		3rd European Rett Syndrome Conference Maastricht, “Research Update & Preventive Management”
		Thalassemia International Federation World Congress
		The 2nd International Workshop Rare Disease and Orphan Drug Registries
		World Cord Blood Congress IV and Innovative Therapies for Sickle Cell Disease
		EUROPLAN National Conferences Hungary
		First International Primary Immunodeficiencies Congress (IPIC)
		World Orphan Drug Congress 2013
		EUROPLAN National Conferences Lithuania
		EUROPLAN National Conferences Netherlands
		EUROPLAN National Conferences Italy
		EUROPLAN National Conferences Luxembourg
		EUROPLAN National Conferences Serbia
		EUROPLAN National Conferences France
		EUROPLAN National Conferences Spain
		EUROPLAN National Conferences Ireland
		EUROPLAN National Conferences Belgium
		14th International Congress on Neuronal Ceroid Lipofuscinoses (Batten Disease)
		19th Congress of the European Association of Hospital Pharmacists
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