Fwd: Orphanews Europe 23 May 2012

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José Antonio Navarro

May 23, 2012, 5:10:51 AM5/23/12

Os remito el último boletín OrphanNews, que puede contener alguna cosa de vuestro interés. Recordar que este boletín solamente se distribuye en inglés.

Saludos a todos.

PD. A los amigos de Hispataxia indicarles que hay trabajos en relación con la ataxia de Friedreich.

---------- Forwarded message ----------
From: <orphanew...@orpha.net>
Date: 2012/5/23
Subject: Orphanews Europe 23 May 2012
To: jana...@yahoo.es

OrphaNews Europe : 23 May 2012
National rare disease plans: Slovenia adopts a strategy, while the Netherlands move forward its development process, and a UK proposal opens for comments

Spotlight on...
Treat-NMD: a model of excellence
Building sustainability into a project plan for post-funding continuity

EU Policy News
The European Commission’s new Health in Europe: Information and Data Interface (HEIDI) tool includes a section for rare diseases
Reflection paper on the classification of advanced therapies open for public consultation

National & International Policy Developments
Rare diseases added to China’s charity aid system
Ireland revamps its policy regarding newborn screening card storage
Other European news
CIBERER co-publishes guide to help rare disease patient organisations navigate media relations
A new patient report weighs the benefits and risks of new medicines for serious and rare diseases
Born Healthy Needs Assessment toolkit for congenital disorders adds six new disorders
Other International News
Very first Biochemistry and Molecular Genetics meeting held in Algeria
Rare diseases in Colombia’s indigenous ethnic populations: ethical and economic considerations
Second annual World PI Week for primary immunodeficiencies focuses on access to treatment
Guidance Documents and Recommendations
Measures delineated for improving evaluation and access to rare lung disease therapies
Amyotrophic lateral sclerosis: a revised version of the guidelines on the clinical management of the European Federation of neurological societies
Bioinformatics, Registries and Data Management
UK biobank opens its data to researchers
Is the time ripe for a Human Phenotype Project?
Implementing an integrated system for the analysis and prediction of drug-disease associations for rare diseases with unidentified molecular bases

Ethical, Legal & Social Issues
Genetic testing legislation updated in the Czech Republic reflecting the Oviedo Convention Additional Protocol on genetic testing
Patient-driven research: a growing phenomenon in the field of rare diseases

New Syndromes
Homozygous AFG3L2 mutations found in a spastic ataxia-neuropathy syndrome expanding the spectrum of m-AAA proteases associated neuropathies
An inherited disorder with splenomegaly, cytopenias, and vision loss
Three cases with terminal 20p deletion presenting with a similar phenotype

New Genes
Normosmic congenital hypogonadotropic hypogonadism: inactivating mutation in KISS1 induces failure of pubertal progression
Seckel and Jawad syndromes: CtIP mutations are at cause, hampering ATR signalling and revealing a new form of genetic mechanism in the former
Familial isolated dilated cardiomyopathy: DOLK mutations reduce O-mannosylation of alpha-dystroglycan via abnormal N-glycosylation
Lissencephaly: de novo missense mutations in DYNC1H1 cause severe intellectual disability associated with variable neuronal migration defects
Fanconi anemias: a novel group defined by XRCC2 mutations
Coenzyme Q10 deficiency can be associated with haploinsufficiency of COQ4
Joubert syndrome and related disorders: mutations resulting in ciliary anomalies found in CEP41 and TMEM138
Autosomal recessive congenital ichthyosis: PNPLA1 mutations found in dogs and humans involve the epidermal lipid barrier formation
Hereditary diffuse leukoencephalopathy with spheroids: CSF1R mutations establish the disease as a member of microgliopathies
Perlman syndrome and nephroblastoma susceptibility: mutations in DIS3L2 identified
Bilateral striopallidodentate calcinosis: mutations in SLC20A2 identify altered phosphate homeostasis as a primary pathophysiological mechanism
CANDLE syndrome is caused by mutations in proteasome subunit PSMB8 suggesting interferon may be a therapeutic target
Congenital short bowel: loss-of-function mutations of CLMP likely interfere with tight-junction formation and disrupt intestinal development
Rare primary hyperaldosteronism: mutations in the potassium channel KCNJ5 induce various phenotypes and clinical outcomes
Autosomal recessive epidermolysis bullosa simplex: loss of BPAG1-e expression impairs hemidesmosome integrity in basal keratinocytes
46,XY disorder of sex development: WWOX involved in gonad development
Idiopathic and/or familial pulmonary arterial hypertension is associated with BMPR1B mutations
Persistent pulmonary hypertension of the newborn: mutations found in corticotrophin-releasing hormone receptor 1 (CRHR1)
Coats disease like with cerebroretinal microangiopathy, calcifications and cysts: mutations found in CTC1 involved in DNA maintenance

Research in Action
Fundamental Research
Primary ciliary dyskinesia: IV mouse model recreates the physiological phenotype of immotile respiratory cilia through a Dnahc11 mutation
Pemphigus vulgaris: an adult passive transfer mouse model to study the involvement of desmoglein 3 antibody-mediated signaling in skin
Epidermolysis bullosa simplex, Ogna type: key features in a mouse model of impaired hemidesmosome formation due to proteolytic cleavage of plectin 1a
Central diabetes insipidus: specific role for liver X receptor β in controlling water balance in both the brain and kidney demonstrated in mice
Clinical Research
Graft versus host disease: UVB irradiation post transplant is safe and improves outcome in allogeneic hematopoietic cells recipients
Epilepsy with myoclonic-astatic seizures: potential therapeutic effect of rufinamide on seizures but with some loss of efficacy in the long-term
Facioscapulohumeral dystrophy: healthy carriers and affected compound heterozygotes question genetic counseling and prenatal diagnosis
Myelofibrosis with myeloid metaplasia: continuous oral ruxolitinib therapy can reduce splenomegaly and improve quality of life and survival of patients
TRAPS syndrome: etanercept reduces symptoms and serum levels of inflammatory markers, but long-term adherence to etanercept is poor
Friedreich ataxia: erythropoietin has no significant hematological, clinical, or biochemical effects
Poikiloderma: neutropenia must be searched in poikiloderma patients in order to avoid diagnostic errors
Sickle cell anemia: blood rheodynamics proposed as a biophysical indicator of vaso-occlusive risk
Amyloidosis: a reliable typing through proteomic analysis of subcutaneous adipose tissue
Gastrointestinal stromal tumor: risk-stratification schemes might reduce risk of overtreatment for patients who can be cured by surgery alone
Frontotemporal dementia with motor neuron disease: mental disorders observed in amyotrophic lateral sclerosis patients with C9orf72 mutation
Children with global developmental delay or intellectual deficiency: an overview of the diagnostic yield of genetic and metabolic testing
Stem Cells
Sickle cell anemia: in situ genetic correction of the responsible mutation in human induced pluripotent stem cells using engineered zinc finger nucleases
Krabbe disease: intravenous delivery of bone marrow-derived mesenchymal stromal cells diminishes neuropathology in a mouse model
Proximal spinal muscular atrophy type 1: ectopic SMN expression in induced pluripotent stem cells restores motoneuron differentiation
Therapeutic Approaches
Huntington disease: intraventricular infusion of ganglioside GM1 induces phosphorylation of mutant huntingtin and restores normal motor function in mice
Friedreich ataxia: delivering a TAT-frataxin fusion protein in mitochondrion increases lifespan and improves cardiac function in mouse
Mucopolysaccharidosis type 6: intrathecal injection of recombinant human N-acetylgalactosamine-4-sulfatase reduces GAG accumulation in the dura of model cats
Williams syndrome: reduction of NADPH-oxidase activity improves the cardiovascular phenotype in a mouse model
Diagnostic Approaches
Duchenne and Becker muscular dystrophy: a platform providing complete characterization of DMD transcripts and accurate molecular diagnosis
Lynch syndrome: a cell-free assay to test the MMR activity in forms associated with variants of uncertain significance

Patient Management and Therapy
A review of autosomal recessive cerebellar ataxia
Fabry disease: implementation of a prognostic index of severity
Pediatric systemic lupus erythematosus: consensus treatment plans for induction therapy of newly diagnosed proliferative lupus nephritis

Orphan Drugs
Regulatory News
Eight positive opinions recommending orphan designation adopted at the April COMP meeting
Three recent rare disease drug approvals from the FDA
Political and Scientific News
Guidelines for orphan drug development in academia and start-ups
Ethical guidelines for the fair distribution of resources for rare diseases

Partnersearch, Job Opportunities
Group leader positions available at the French Imagine Institute for rare genetic diseases
EUCERD Joint Action: working on bringing rare disease policy into action

Courses & Educational Initiatives
The European School of Genetic Medicine celebrates its 25th anniversary with special courses
OroDysmorphology Course
Summer School for Clinical Practice Guidelines on Rare Diseases
Epidermolysis Bullosa – An Introduction and Advanced Management courses
Goldrain Courses in Clinical Cytogenetics and Prenatal Genetic Diagnosis
Master of Science in Haemoglobinopathy
The European School of Haematology distance learning tools
Orphan Academy 2012 Programme
EuroGentest Quality Management and Accreditation/Certification of Genetic Testing Workshops

What's on Where?
12th International Conference on Myasthenia Gravis and Related Disorders
6th European Conference on Rare Diseases & Orphan Products
Symposium on Neurocognitive Developmental Disorders
5th International Conference on Ectodermal Dysplasia (ED2012)
2nd Annual Orphan Drug Congress 2012
1st European Conference on Aniridia
10th International Primary Hyperoxaluria Workshop
7th World Rett Syndrome Congress
European Human Genetics Conference 2012
11th Conference of the International Association of Bioethics: Bioethics and the Future, and the Future of Bioethics
European Working Group on Gaucher Disease Meeting
World Federation of Hemophilia World Congress
Retina International World Congress
3rd Annual Orphan Drug Summit
7th European Elastin Meeting
13th International Workshop on Multiple Endocrine Neoplasia
The 13th International Meeting on Human Genome Variation and Complex Genome Analysis (HGV2012)
First International Symposium on the Ehlers-Danlos Syndrome
15th Biennual Meeting of the European Society for Immunodeficiencies
Mechanisms of Intellectual Disability: From Genes to Treatment
EpiRare International Workshop: Rare Disease and Orphan Drug Registries
Second International Conference on Esophageal Atresia: From the Fetus to the Adult
15th Society for the Study of Behavioural Phenotypes International Research Symposium and Education Day: Social Phenotypes in Genetic Disorders
3rd Pan-European Conference on Haemglobinopathies and Rare Anaemias: Towards the Future
The Second Joint International Symposium on Neuroacanthocytosis and Neurodegeneration with Brain Iron Accumulation
International Ataxia Research Conference
8th International Society for Newborn Screening European Regional Meeting
6th International Symposium on Childhood MDS and Bone Marrow Failure syndromes
10th Asia-Pacific Conference on Human Genetics
7th Alstrom Syndrome International Family Conference and Scientific Symposium
8th International Prader-Willi Syndrome Conference

Media, Press & Publications
Health Policy considers health care structures and services for rare diseases

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