Fwd: Orphanews Europe 4 July 2013

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José Antonio Navarro

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Jul 4, 2013, 6:23:42 AM7/4/13
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From: <orphanew...@orpha.net>
Date: 2013/7/4
Subject: Orphanews Europe 4 July 2013
To: jana...@yahoo.es


OrphaNews Europe : 4 July 2013
 
Editorial
Scoping study published on the current state of European Reference Networks and future implications

 
EUCERD update
Executive Summary of the 8th Meeting of the EUCERD now available

 
Spotlight on...
International Rare Disease Research Consortium now a part of Global Alliance

 
EU Policy News
EU quality of health care policy: how much is too much interference for the Member States
 
Other International News
 
Guidance Documents and Recommendations
American College of Medical Genetics and Genomics technical standards and guidelines: microarray analysis for chromosome abnormalities in neoplastic disorders
ACMG position statement on prenatal/preconception expanded carrier screening:
Cysticercosis: guideline of the evidence base for different treatment strategies in adults and children
Emergency guidelines and documents on Orphanet
 
Bioinformatics, Registries and Data Management
From database to clinical trials: the case of juvenile neuronal ceroid lipofuscinosis (JNCL)

 
Ethical, Legal & Social Issues
Crediting OrphaNews for disseminating information published in the newsletter
U.S supreme court says no to patenting human genes but yes to patenting cDNA
Defining “incidental findings” and the underlying ethics
Discussion of Ethics of Non-invasive prenatal testing for single gene disorders using hypothetical scenarios

 
New Syndromes
A novel syndrome of hypohidrosis and intellectual disability linked to COG6 deficiency
Mutation in ADAT3 causes a novel autosomal recessive form of intellectual disability with strabismus
Multisystemic failure including renal tubulopathy caused by a homozygous mutation in TWINKLE in three siblings

 
New Genes
Leukoencephalopathies due to ClC-2 chloride channel deficiency
Familial exudative vitreoretinopathy: ZNF408 mutation identified in a large Dutch family
Autosomal recessive limb-girdle muscular dystrophy caused by a novel homozygous splice site mutation in DES in two affected individuals of a consanguineous family
C3 glomerulopathy: description of a novel pathogenic mechanism caused by a unique CFHR1 mutation
Congenital dyserythropoietic anemia type 3 is caused by a novel mutation in kinesin family member, KIF23
Aplasia cutis congenital verticis: novel link between BMS1, the cell cycle, and skin morphogenesis
LINS, a modulator of the WNT pathway, is an indispensable gene to human cognition
46,XY partial gonadal dysgenesis: novel androgen receptor mutation identified in one family
Acute generalised exanthematous pustulosis: recessive mutations in the IL36RN gene
Predisposition to encephalopathy with febrile status epilepticus due to genetic variation in ADORADA2
Idiopathic ventricular fibrillation, not Brugada type: non-synonymous polymorphism in SEMA3A as a risk factor
Congenital pulmonary venous return anomaly: identification of SEMA3D signalling defects
Amyotrophic lateral sclerosis: involvement of CREST variants
Congenital heart disease: a marked excess of de novo mutations in histone-modifying genes
Meckel syndrome: likely pathogenic mutation in three novel candidate disease genes
Oculocutaneous albinism: exome sequencing identifies SLC24A5 as a candidate gene
Pituitary adenoma and pheochromocytoma/paraganglioma are associated with familial SDHA mutation

 
Research in Action
 
Clinical Research
Atypical hemolytic uremic syndrome: terminal complement inhibitor eculizumab was associated with significant time-dependent improvement in renal function
Urea cycle disorder: ammonia control and neurocognitive outcome with glycerol phenylbutyrate
Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG: rituximab is ineffective in improving inflammatory neuropathy
Mucopolysaccharidosis type 2: improvement in growth rate following idursulfase treatment
Myelofibrosis with myeloid metaplasia: review and discussion of published and presented survival data on patients treated with ruxolitinib
Kennedy disease: positive effect of clenbuterol on the disease progression
 
Gene Therapy
Rescue of the disease phenotypes of X-linked retinoschisis and Leber’s congenital amaurosis with a new evolved adeno-associated virus variant
 
Therapeutic Approaches
Transthyretin-related familial amyloid cardiomyopathy: AG10 inhibits amyloidogenesis and cellular toxicity
Primary effusion lymphoma: strong rationale for the combined use of bortezomib and suberoylanilidehydroxamic acid
Mucopolysaccharidosis type 1: enzyme replacement therapy started at birth improves outcome in difficult-to-treat organs
 
Diagnostic Approaches
Three Clinical Utility Gene Cards published in the European Journal of Human Genestic
Isolated NADH-CoQ reductase deficiency: association of NUBPL mutations with a unique, consistent, and recognisable magnetic resonance imaging pattern
Central nervous system lymphomas: CXCL13 and IL-10 as potentially important biomarkers

 
Patient Management and Therapy
Immune thrombocytopenic purpura: increased risk of venous thrombosis and sepsis after splenectomy
PMM2-CDG syndrome: assessment of the occurrence of specific risk factors for thrombotic events

 
Orphan Drugs
 
Regulatory News
Two medicinal products intended to treat rare diseases approved by EMA
Japan approves Avastin for brain cancer
22 positive opinions recommending orphan designation at the June 2013 COMP meeting
 
Political and Scientific News
French Brugada Association calls for enquiry into the depleting amount of Quinidine in the market
Experts of chronic myeloid leukaemia Nature Biotechlogy addressing excessive drug prices

 
Grants
Jérôme Lejeune Foundation - Research Projects
Care-for-Rare Science Award 2013
NORD announces seed grants for rare disease research

 
Partnersearch, Job Opportunities
Grantholder position for the establishment of the European Technological Platform on Rare Diseases

 
Courses & Educational Initiatives
International Summer School “Clinical practice guidelines on rare diseases”
The 1st radiz Rare Diseases Summer School
International Summer School Rare Disease and orphan Drug Registries
Orphan Drug & Rare Disease Seminar: accelerating access to therapeutic innovation

 
What's on Where?
Haemophilia centres certification system across Europe
8th International Prader-Willi Syndrome Conference
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'
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
EUROPLAN National Conferences Italy
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
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
HGV2013: 14th International Meeting on Human Genome Variation and Complex Genome Analysis
First International Primary Immunodeficiencies Congress (IPIC)
EUROPLAN National Conferences The Netherlands
World Orphan Drug Congress 2013
EUROPLAN National Conferences Lithuania
EUROPLAN National Conferences Luxembourg
XIIIth International Congress on Neuromuscular Diseases (ICNMD)
 
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