Fwd: Orphanews Europe 29 February 2012

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José Antonio Navarro

Feb 29, 2012, 6:37:34 AM2/29/12
En este día mundial de las enfermedades raras, os remito el boletín de OrphaNews por si os resultara de interés alguno de los temas tratados.


---------- Forwarded message ----------
From: <orphanew...@orpha.net>
Date: 2012/2/29
Subject: Orphanews Europe 29 February 2012
To: jana...@yahoo.es

OrphaNews Europe : 29 February 2012
Today is our day!
International Rare Disease Day calls for a show of solidarity around the world as a record number of countries join hands to raise awareness

EUCERD update
The EUCERD loses a cherished member: Torben Gronnebaek
Defeating the lion: a perspective on solidarity from the EUCERD
Test your rare disease knowledge!

EU Policy News
Commission data protection reform affects medical information too
New video from the DG Sanco explains how medicinal products are authorised in the EU
Confidentiality arrangement with Japan extended another year
European Medicines Agency publishes guideline on use of pharmacogenetics in evaluating pharmacokinetics of medicines

National & International Policy Developments
Other European news
Finland forms national rare disease umbrella group
Other International News
Three articles take stock of the USA’s Undiagnosed Diseases Program
Investigational new drugs for rare diseases: a statement from the Society for Inherited Metabolic Disorders
Guidance Documents and Recommendations
New guidance available for the mitochondrial syndromes
Bioinformatics, Registries and Data Management
Assuring quality in institution-based neonatal rare disease prospective inception cohort studies
Screening and Testing
New on the marketplace: an optimised service for rare disease sequencing and analysis
New report seeks to improve the application of genomic technologies in the UK

Ethical, Legal & Social Issues
A survey of legislation for genetic testing in Western Europe
What is the experience of parents choosing to continue a pregnancy for which a genetic disorder has been detected?

EU Project Follow-up
The evolution of an international registry from an FP7-funded initiative: the International Disorders of Sex Development Registry

New Syndromes
A childhood encephalopathy caused by thiamine pyrophosphokinase deficiency
Ichthyosis, intellectual disability, and spastic quadriplegia due to recessive mutations in ELOVL4
A unique and complex tooth malformation phenotype reveals SMOC2 as an early dental developmental gene
Dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss mapping to 3p21.3
DAVID: a new association consisting in Deficit in Anterior pituitary function and Variable Immune Deficiency
Ketamine-induced biliary dilatation: a new entity linked to drug of abuse
A new X-linked intellectual deficit syndrome

New Genes
Neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation: homozygous mutation in LIAS identified in a boy
Joubert syndrome and related disorders: identification of mutations in TMEM237
Spondyloepimetaphyseal dysplasia with multiple dislocations: KIF22 is responsible
Familial flecked retinopathy: biallelic mutations found in PLA2G5 in benign form
Congenital aural atresia (microtia): disruption of teashirt zinc finger homeobox 1 (TSHZ1) at cause
Early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD): mutations in MEGF10 are responsible
Paroxysmal kinesigenic dyskinesia, ICCA syndrome, and benign familial infantile seizures: mutations in PRRT2 identified
Autosomal recessive primary microcephaly: the centrosomal gene CEP63 is mutated in a family
Familial digital arthropathy-brachydactyly: TRPV4 mutations reducing channel activity at cause
Frontotemporal dementia with or without motor neuron disease: three research groups report on the pathogenicity of a GGGCC repeat expansion in C9ORF72
Isolated NADH-CoQ reductase deficiency: defective NDUFA9 is a novel cause of neonatally fatal disease
Split hand - split foot: identification of a DLX5 mutation in a family with autosomal recessive disease
Autosomal recessive progressive external ophthalmoplegia: TK2 (thymidine kinase 2) mutations can underlie the disease
Osteogenesis imperfecta type 3: a mutation causing deficient BMP1 proteolytic activity is responsible in a family with autosomal recessive disease
Kawasaki disease: FCGR2A is a susceptibility locus
Enchondromatosis (Ollier disease) and Maffucci syndrome: somatic mosaic IDH1 and IDH2 mutations are associated

Research in Action
Fundamental Research
Rubinstein-Taybi syndrome: histone acetylation defects, mainly involving H2B and H2A, identified in lymphoblastoid cell lines from patients
Rett syndrome: the two MeCP2 splice variants can substitute for each other and fulfill the basic functions of MeCP2 in the mouse brain
Athabaskan brainstem dysgenesis and Bosley-Salih-Alorainy syndromes: severe cardiovascular malformations in a mouse model (Hoxa1 null mice)
Aneuploid syndromes: induced pluripotent stem cells from patients can model early embryogenesis
Fragile X-associated tremor/ataxia syndrome: activation of gypsy retrotransposon can modulate CGG repeats-mediated neurodegeneration in a drosophila model
Proximal spinal muscular atrophy: severe neuromuscular denervation of clinically relevant muscles, amendable by trichostatin A treatment, in a mouse model
Huntington disease: IRE1 plays an essential role in endoplasmic reticulum stress-mediated aggregation of mutant huntingtin via the inhibition of autophagy flux
Neurofibromatosis type 1: ANRIL is a modifier gene, which influences the number of plexiform neurofibromas
Retinitis pigmentosa: C1q enhances cone photoreceptor survival in a mouse model of autosomal recessive disease
Clinical Research
Graft-versus-host disease: low-dose interleukin-2 can reverse chronic disease
Hereditary nonpolyposis colon cancer: CAPP2 long-term results show that aspirin is an effective chemopreventive agent for colorectal cancer
Advanced neuroendocrine tumours associated with carcinoid syndrome: positive effect of everolimus plus octreotide long-acting repeatable
Renal cell carcinoma: superiority of axitinib over sorafenib as second-line therapy in patients with advanced disease
Glycogen debranching enzyme deficiency: successful experimental treatment of severe cardiomyopathy in an infant
Juvenile idiopathic arthritis: factors associated with treatment response to etanercept
Huntington disease: report of potential endpoints for clinical trials in premanifest and early disease (24 month results of TRACK-HD study)
Meningioma: a meta-analysis of individual paediatric patient data
Myotonic muscular dystrophy types 1 and 2: patients are at increased risk of malignancy
Facioscapulohumeral dystrophy: patients with a phenotype consistent with the disease display genetic and epigenetic heterogeneity
Sirenomelia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research
Gene Therapy
Menkes disease: ATP7A gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a mouse model
Huntington disease: progresses towards reduction of huntingtin expression in vitro and in animal models
Neuroblastoma: favourable effects of selective therapeutic targeting of the anaplastic lymphoma kinase with liposomal siRNA in mice
Steinert myotonic dystrophy: stabilisation of expanded CTG repeats in DMPK gene by antisense oligonucleotides
Therapeutic Approaches
Haemophilia: a zymogen-like factor Xa variant corrects the coagulation defect in mouse models
Diagnostic Approaches
Osteogenesis imperfecta: European Molecular Genetics Quality Network (EMQN) guidance for laboratory diagnosis
Huntington disease: discrepancies in reporting the CAG repeat lengths reinforce the need to participate in external quality assessment schemes
Alport syndrome: advances in diagnosis using next-generation sequencing

Patient Management and Therapy
Erdheim-Chester disease: clinical, radiological, prognostic, and therapeutic features
Sickle cell anaemia: a comprehensive review of the literature on children management
Spina bifida: providing a primary care medical home for children and youth
Three new Clinical Utility Gene Cards available

Orphan Drugs
Political and Scientific News
An assessment of Belgium’s orphan drug reimbursement decision process

Two separate funding announcements for Niemann-Pick disease research

Partnersearch, Job Opportunities
Career opportunity: Inaugural Director of the Center for Orphan Disease Research and Therapy at University of Pennsylvania

Courses & Educational Initiatives
Tenth European Course on the Evaluation of Medicinal Products in Children
The European School of Genetic Medicine celebrates its 25th anniversary with special courses
OroDysmorphology Course
Goldrain Courses in Clinical Cytogenetics and Prenatal Genetic Diagnosis
Master of Science in Haemoglobinopathy
Orphan Academy 2012 Programme
EuroGentest Quality Management and Accreditation/Certification of Genetic Testing Workshops

What's on Where?
Second ASID Congress of the African Society for Immunodeficiencies
European Organisation for Research and Treatment of Cancer (EORTC) 50th Anniversary Conference
Genomic Disorders 2012
The Fourth BHD Symposium for Birt-Hogg-Dubé syndrome
13th International Conference on Neuronal Ceroid Lipofuscinosis and 1st Worldwide Meeting of Batten Disease Int'l Alliance
International Symposium on Hepatic Glycogen Storage Diseases
Fourth International Meeting on Primary Central Hypoventilation Syndromes
Myomatrix 2012 Conference
8th International Congress on Autoimmunity
CILIA 2012 - Cilia in Development and Disease Date: 16-18 May 2012
Sixth International Alkaline Phosphatases Symposium
6th European Conference on Rare Diseases & Orphan Products
5th International Conference on Ectodermal Dysplasia (ED2012)
10th International Primary Hyperoxaluria Workshop
European Human Genetics Conference 2012
European Working Group on Gaucher Disease Meeting
World Federation of Hemophilia World Congress
Retina International World Congress
7th European Elastin Meeting
First International Symposium on the Ehlers-Danlos Syndrome
3rd Pan-European Conference on Haemglobinopathies and Rare Anaemias: Towards the Future
10th Asia-Pacific Conference on Human Genetics
8th International Prader-Willi Syndrome Conference

Media, Press & Publications
Children's Upper and Lower Limb Orthopaedic Disorders
Diagnosis and Management of Adult Congenital Heart Disease
Did Elizabeth Barrett Browning have a rare disease?

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