Fwd: Orphanews Europe 21 November 2012

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José Antonio Navarro

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Nov 21, 2012, 4:26:23 AM11/21/12
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Hola, os remito el boletín distribuido hoy de OrphaNews.

Saludos.

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From: <orphanew...@orpha.net>
Date: 2012/11/21
Subject: Orphanews Europe 21 November 2012
To: jana...@yahoo.es


OrphaNews Europe : 21 November 2012
 
Editorial
Spain’s government declares 2013 the Spanish Year of Rare Diseases

 
Spotlight on...
OrphaNews Europe to get a new editor in January

 
National & International Policy Developments
Assessing health needs for neural tube defects in Argentina using the Born Healthy toolkit
New UK report asserts that rare diseases are frequently neglected or misdiagnosed and that treatment and services are not evenly available
 
Other European news
E-patients, e-parents, e-doctors: web opportunities and risks workshop helps Italian stakeholders use Internet tools for sharing rare disease information
Perception of rare diseases by Primary Care Physicians in Spain
 
Other International News
 
Guidance Documents and Recommendations
Family management guide for congenital muscular dystrophy available in Spanish; translations underway in a dozen other languages
 
Bioinformatics, Registries and Data Management
Human Mutation focuses on neurogenetics databases
Controversy in genetic testing: Privately owned genetic databases may hinder diagnosis
 
Screening and Testing
New website helps healthcare professionals identify early signs of paediatric muscle weakness and neuromuscular disease

 
Ethical, Legal & Social Issues
How to reduce bureaucracy while preserving the necessary ethics processes in rare paediatric disease studies?

 
EU Project Follow-up
CliniBook provides a reference for state-of-the-art gene transfer technology

 
Orphanet News
 
New Texts
Three new rare disease emergency guidelines available in English

 
New Syndromes
An autosomal recessive congenital cerebellar ataxia associated with mutations in the metabotropic glutamate receptor mGluR1
Early-onset Lafora body disease associated with an excessive sequestration of laforin and malin in nucleus
Susceptibility to EV-HPV infections induced by T cell defects
Paraganglioma with polycythemia in two women: may be a new syndrome due to somatic HIF2 mutations
Lateral tibial and distal fibular bowing with short stature in two siblings

 
New Genes
Amelogenesis imperfecta: C4orf26 mutations are a major cause and provide new insights into biomineralization
Walker-Warburg syndrome: GTDC2 mutations impair α-dystroglycan glycosylation in zebrafish
Torg-Winchester syndrome: MT1-MMP mutations result in an osteolysis related to but distinct from the condition induced by MMP2 mutations
Achromatopsia: a PDE6H mutation identified in an incomplete form with preserved short-wavelength-sensitive cone function
Bilateral polymicrogyria: RTTN mutations link primary cilia function to organization of the human cerebral cortex
Familial multiple meningioma: a role for the SUFU gene previously associated with childhood medulloblastoma predisposition
Autosomal dominant spastic ataxia: a VAMP1 mutation suggests involvement of this gene in ataxia and spastic paraplegia, at least in Newfoundland families
Catel-Manzke syndrome: IMPAD1 mutations identified in a like-form including additional features
Brown-Vialetto-van Laere syndrome: SLC52A2 mutation found in a delayed, slowly progressive form
Autosomal recessive nonsyndromic sensorineural deafness type DFNB: TSPEAR mutations identified in a new deafness locus
Isolated punctate palmoplantar keratoderma: identification of a likely causal mutation in COL14A1
Isolated succinate-CoQ reductase deficiency: first example of SDHB involvement into a primary mitochondrial disease
Autosomal dominant hereditary woolly hair with hypotrichosis: first KRT71 mutation involved in a human familial hair disorder
Usher syndrome: an ABHD12 mutation found in a family with type 3-like form that can be confused with PHARC
Porokeratotic eccrine ostial and dermal duct nevus may be caused by mosaic GJB2 mutations coding for the gap junction protein connexin26

 
Research in Action
Rare disease research revealing Nature’s secrets
 
Fundamental Research
Distal renal tubular acidosis: Atp6v0a4 knockout mouse recapitulates the loss of H+-ATPase function seen in human disease
Duchenne muscular dystrophy: E2F1 deficiency improves muscle performance through increased oxidative metabolism in mouse model
Fetal valproate syndrome: acid valproic induces transcriptional deregulation and disturbs neural differentiation in human embryonic stem cells
Muscle filaminopathy: a novel zebrafish model resulting from a nonsense mutation in one of the two zebrafish filamin C homologues
 
Clinical Research
Thalassemia: iron chelator deferasirox significantly reduces iron overload in nontransfusion-dependent patients
Acute myeloid leukemia: gemtuzumab ozogamicin as postconsolidation therapy does not prevent relapse in children
Anaplastic thyroid carcinoma: pazopanib monotherapy demonstrates minimal activity in cases with advanced disease
Acute lymphoblastic leukemia: complete remission with imatinib associated with intensive chemotherapy in a Philadelphia-chromosome-positive form
Glycogen storage disease due to acid maltase deficiency: the emerging phenotype of long-term survivors with infantile form due to enzyme replacement therapy
Amyotrophic lateral sclerosis: evidence for an oligogenic aetiology in familial and sporadic forms
Ataxia-telangiectasia: oral betamethasone could be a promising therapy to relieve ataxia symptoms according to a controlled study
 
Stem Cells
Congenital tracheal stenosis: airway still functional 2 years after a stem-cell-based tracheal replacement in a patient
Proximal spinal muscular atrophy: functional and stable integration of amniotic fluid stem cells into the skeletal muscle of a mouse model
 
Gene Therapy
Stargardt disease: persistent ABCA4 transgene expression with functional and structural improvement in mice using DNA nanoparticles
Kennedy disease: early silencing of CELF2 through miRNA overexpression ameliorates the motor impairment of mice model
 
Therapeutic Approaches
Frontotemporal dementia with motor neuron disease: autophagy activators rescue and/or slow down the pathogenesis of mouse model
Huntington disease: single-stranded siRNAs inhibit mutant HTT expression in patient-derived cells and model mice
Amyotrophic lateral sclerosis: modulating inflammatory monocytes profile slows disease progression and attenuates neuronal damage in a mouse model
Achondroplasia and thanatophoric dysplasia: efficiency of PTH treatment against delayed skeletal development and postnatal lethality in mouse
 
Diagnostic Approaches
Osteogenesis imperfecta: determination of pigment-epithelium derived factor (PEDF) serum levels helps to diagnose the type VI

 
Patient Management and Therapy
Congenital heart malformations: an increased risk of neurodevelopmental disorders necessitating a pediatric surveillance
Transthyretin cardiac amyloidosis: an underappreciated contributor to heart failure in elderly patients
Hodgkin lymphoma in adults: a management review with a focus on late effects of treatment
A review of non-Hodgkin lymphoma
Melioidosis: recent developments in pathogenesis, diagnostics, and treatment
Complex I deficiency: clinical features, biochemistry and molecular genetics

 
Orphan Drugs
 
Regulatory News
Two treatments for chronic myelogenous leukaemia approved in the USA
13 positive opinions recommending orphan designation at the November COMP meeting
 
Political and Scientific News
A comparison of Health Technology Assessment processes for orphan drugs in five different countries reveals significant variability
Do the incentives to develop orphan drugs have undesirable side-effects?
A review of the first decade of Europe’s Orphan Drug Regulation identifies areas for improvement

 
Grants
Rare Disease Science Challenge: Be HEARD offers a unique scheme to boost rare disease research by awarding donated software, reagents and consulting services

 
Courses & Educational Initiatives
European Cytogeneticists Association Courses
Online Master of Science in Haemoglobinopathy
The European School of Haematology distance learning tools
Goldrain Courses in Clinical Cytogenetics and Prenatal Genetic Diagnosis
Orphan Academy 2012 Programme
EuroGentest Quality Management and Accreditation/Certification of Genetic Testing Workshops

 
What's on Where?
3rd Annual World Orphan Drug Congress
Translating Genomics Conference
Epposi Conference on an Optimal European Chronic Care Model: Towards Implementation and Benchmarking
10th Asia-Pacific Conference on Human Genetics
Symposium ATP1A3 in Disease: From Gene Mutations to New Treatments
Epposi Conference on Building a Framework for Societal Benefits Approach to Health Technology Assessment
5th International Meeting on Pulmonary Rare Diseases and Orphan Drugs
3rd Annual World Orphan Drug Congress
First GENCODYS International Conference: Integrative Networks in Intellectual Disabilities
World Federation of Hemophilia 13th International Musculoskeletal Congress 2013
7th Alstrom Syndrome International Family Conference and Scientific Symposium
Autoinflammation 2013: 7th International Congress of the International Society of Systemic Auto-Inflammatory Diseases
4th International DSD (Disorders of Sex Development) Symposium
World Orphan Drug Congress Asia
The 9th European Cytogenetics Conference
8th International Prader-Willi Syndrome Conference
First International Primary Immunodeficiencies Congress (IPIC)

 
Media, Press & Publications
A balanced assessment of consanguinity around the world: Consanguinity in Context
Manual of Pediatric Neurology
ISCN 2013: An International System for Human Cytogenetic Nomenclature – updated and extended
 
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