Fwd: Orphanews Europe 24 October 2012

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José Antonio Navarro

Oct 24, 2012, 7:25:19 AM10/24/12
Boletín emitido en el día de hoy por OrphaNews.


---------- Forwarded message ----------
From: <orphanew...@orpha.net>
Date: 2012/10/24
Subject: Orphanews Europe 24 October 2012
To: jana...@yahoo.es

OrphaNews Europe : 24 October 2012
Country editions of the 2012 EUCERD Report on the State of the Art of Rare Disease Activities in Europe break down data into national reports

Spotlight on...
IRDiRC is moving ahead!

EU Policy News
The European Commission proposes a revision of the current legislation for medical devices and in vitro diagnostic medical devices
European Directory of Health Apps includes several applications relevant to rare diseases
Orphanet chosen as an example of successful EU-funded projects

National & International Policy Developments
A framework for orphan medicinal products under development in Canada
In England, a new report recommends the specific specialised services for rare conditions to be nationally commissioned
Other European news
New report considers the challenges of personalised medicine
University of Edinburgh awarded £60 million for genetic disease research
A proposition for a new evaluation mechanism to assist European countries in orphan drug pricing and reimbursement decisions
Ciberer’s 2011 annual report reflects ongoing progress despite budget restrictions
Other International News
South Africa: an overview of genetic services and testing practices
The legacy of a rare disease … St Jude Children’s Research Hospital helps children chronicle their individual journey
Guidance Documents and Recommendations
Hereditary angioedema: a consensus on therapeutic strategies
Hereditary recurrent fevers: guidelines for the genetic diagnosis
Multiple endocrine neoplasia type 1: clinical practice guidelines
Bioinformatics, Registries and Data Management
Norwegian researchers develop web-based supportive social software resource programme to foster self-care and independence for patients with a rare anomaly
An international registry for neurodegeneration with brain iron accumulation created within the context of the FP7-funded TIRCON project
Two recent publications report on the Eurofever registry for autoinflammatory diseases
Screening and Testing
Two separate articles address diagnostics issues for rare cancers

Orphanet News
New Texts
New rare disease emergency guideline available in Spanish for familial long QT syndrome

New Syndromes
First cases of familial cortical myoclonus without epilepsy or other neurological deficits
A diencephalic-mesencephalic junction dysplasia with characteristic midbrain MRI findings
A novel chondroectodermal dysplasia mapped to chromosome 2q24.1-q31.1
A novel form of autosomal recessive complex hereditary spastic paraparesis linked with a Vps37A mutation
A possibly new X-linked intellectual disability resembling Wilson-Turner syndrome

New Genes
POC1A mutations are associated with short stature, specific facial features, and in some cases onychodysplasia and hypotrichosis
Alternating hemiplegia of childhood: most cases are due to de novo ATP1A3 mutations
Leber congenital amaurosis: mutations identified in NMNAT1, some of them involved in an early-onset severe form
Adams-Oliver syndrome: RBPJ mutations identified in two families establish a link with Notch pathway
Oral-facial-digital syndrome type 4, Joubert syndrome with orofaciodigital defect: TCTN3 mutations involved in a severe form
Hereditary motor and sensory neuropathy, Okinawa type: a TFG mutation highlights a new pathway of motor neuron death
Cornelia de Lange syndrome: HDAC8 mutations disturb the cohesine acetylation cycle
Amyotrophic lateral sclerosis: PFN1 mutations cause a familial form with cytoskeletal pathway alterations
X-linked cerebellar ataxia type 1: a mutation in plasma membrane Ca2+ ATPase isoform 3 (ATP2B3 gene) impairs Ca2+ homeostasis
Arrhythmogenic right ventricular dysplasia: a causative DES mutation associated with accumulation of desmin in muscle
Brachyolmia: PAPSS2 mutations cause an autosomal recessive form with a gradation of phenotypes
Smith-McCort dysplasia: a RAB33B mutation supports the critical role of Golgi apparatus and intracellular traffic
Hypohidrotic ectodermal dysplasia: a possible link with mutations altering TRAF6 or TRAF6 interacting domain of XEDAR
Cleidocranial dysplasia: microduplications dysregulating MSX2 expression reveal an additional pathogenic mechanism

Research in Action
Fundamental Research
Glutaric acidemia type 2: mutations at the flavin binding site of ETF:QO in drosophila reproduce the biochemical defects of severe human forms
Spinocerebellar ataxia type 3: inhibition of calpain activity reduces neural dysfunction and neurodegeneration in mouse brain
Leber congenital amaurosis: Gucy2f-knockdown zebrafish can serve as available model
Idiopathic pulmonary fibrosis: a review about newly described cellular and molecular mechanisms
Multiple sulfatase deficiency: astrocyte dysfunction triggers neurodegeneration
Rett syndrome: MECP2 appears required to maintain full neurological function once development is complete, but not for brain development
Steinert myotonic dystrophy: Mbnl2 knockout mice study suggests brain pathology results from disruption of the MBNL2-mediated developmental splicing programme
Idiopathic and/or familial pulmonary arterial hypertension: impaired natural killer cell phenotype and function identified in patients
Shwachman-Diamond syndrome: SBDS appears to be required for normal pancreatic development and function in a new mouse model with pancreas-specific SBDS knockout
Clinical Research
Very early-onset inflammatory bowel disease with perianal disease:
patients should be screened for IL10/IL10R deficiency, and allogenic haematopoietic stem cell transplantation can induce remission in case of IL10R deficiency
Juvenile idiopathic arthritis: a prediction model to identify JIA patients not responding to methrotrexate
Juvenile idiopathic arthritis: parenteral methotrexate is not superior to oral administration regarding efficacy and tolerability
Behcet disease: immunosuppressive agents significantly reduce the incidence of venous thrombosis relapse
Early-onset autosomal dominant Alzheimer disease: the first biomarker changes can be detected more than 20 years before the clinical onset of dementia
Uveitis: a better interdisciplinary approach might help earlier diagnosis of co-existing diseases and patient management
Stem Cells
Multiple system atrophy: autologous mesenchymal stem cell1 therapy could delay the progression of neurological deficits in mild to moderate stages
Cystic fibrosis: a method for generating patient-specific airway epithelial cells for disease modeling and in vitro drug testing
Gene Therapy
Autosomal dominant nonsyndromic sensorineural deafness type DFNA: successful restoration of hearing using AAV-VGLUT3 delivery in mouse
Duchenne muscular dystrophy: regional gene delivery with transient immunosuppression reconstitutes the dystrophin-glycoprotein complex in a dog
Sandhoff disease: intracranial transfer of genes encoding the deficient enzymes at a few strategic sites treats neurodegeneration in mouse
Mucopolysaccharidosis type 3: hematopoietic stem cell transplantation more efficient when conjugated with gene therapy
Meckel and Jeune syndromes: IFT88 is a disease causing gene and gene therapy rescues cilia defects and restores olfactory function in a mouse model
Therapeutic Approaches
Steinert myotonic dystrophy: antisense silencing corrects physiological, histopathologic and transcriptomic features in mouse
Glioblastoma: FGFR inhibitors may be beneficial for a small subset of patients found to harbour an oncogenic FGFR-TACC fusion
Amyotrophic lateral sclerosis: targeting EPHA4 or APP may be helpful in the design of a disease-modifying approach
Omenn syndrome: anti-CD3 epsilon monoclonal antibody improves thymic architecture and prevents autoimmune manifestations in a mouse model
Rett syndrome: fingolimod, a sphingosine-1 phosphate receptor modulator, increases BDNF levels and improves symptoms of mice lacking MECP2
Duchenne muscular dystrophy: new promising approaches to restore dystrophin expression in mice
Diagnostic Approaches
Bardet-Biedl syndrome, Alström syndrome: a strategy providing reliable detection of causative mutations for diseases with high genetic heterogeneity

Patient Management and Therapy
Moyamoya disease: two separate articles propose guidelines
Aniridia: clinical manifestations, molecular basis including genotype-phenotype correlations, diagnostic approaches and management
Congenital muscular dystrophy: a review about the recent advances improving understanding of the pathogenic mechanisms
Cleft palate, cleft lip/palate: when is prenatal invasive diagnosis indicated and what about genetic counselling?
An update on primary angiitis of the central nervous system
Interstitial lung disease: a focus on connective tissue disease-associated forms
Dermatomyositis: recent advances in understanding of the pathogenesis and in therapeutic approaches of the juvenile form
Carnitine uptake deficiency: an overview of clinical manifestations, diagnosis, and management
Two new Clinical Utility Gene Cards available

Orphan Drugs
Regulatory News
16 positive opinions recommending orphan designation at the October COMP meeting
Political and Scientific News
A look at the impact of the orphan drug regulatory environment
Compounded medications: orphan drug development should focus on rare diseases with an unmet medical need

Online Submission Portal now open for the European Clinical Research Infrastructures Network (ECRIN) call supporting multinational extension of rare disease clinical trials

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?
41st European Society of Clinical Pharmacy Symposium: Personalised and Safe Therapy
6th International Workshop on Alkaptonuria
International Ataxia Research Conference
8th International Society for Newborn Screening European Regional Meeting
6th International Symposium on Childhood MDS and Bone Marrow Failure syndromes
Newborn Screening: Challenges for Europe
3rd Annual World Orphan Drug Congress
Translating Genomics Conference
10th Asia-Pacific Conference on Human Genetics
Symposium ATP1A3 in Disease: From Gene Mutations to New Treatments
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
7th Alstrom Syndrome International Family Conference and Scientific Symposium
Autoinflammation 2013: 7th International Congress of the International Society of Systemic Auto-Inflammatory Diseases
9th European Cytogenetics Conference
8th International Prader-Willi Syndrome Conference
First International Primary Immunodeficiencies Congress (IPIC)

Media, Press & Publications
Advances in rare pulmonary diseases
Case reports may not be frequently cited in the literature, but they still have an impact on the understanding of (rare) diseases and are of interest to readers
The Center for Drug Evaluation and Research monthly Small Business Chronicles provide information on orphan drugs and related topics

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