Fwd: Orphanews Europe 21 September 2012

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José Antonio Navarro

Sep 21, 2012, 7:32:01 AM9/21/12
Aquí está el último boletín de OrphaNews, por si os pudiera resultar de interés.


---------- Forwarded message ----------
From: <orphanew...@orpha.net>
Date: 2012/9/21
Subject: Orphanews Europe 21 September 2012
To: jana...@yahoo.es

OrphaNews Europe : 21 September 2012
Czech National Rare Disease Plan 2012-2014 officially adopted!

Spotlight on...
NoTube online Internet coaching for feeding-tube dependent children offers an example of how cross-border e-health care can reduce patient costs

EU Policy News
European Commission adopts three texts promoting access to publicly funded scientific research
New leadership at the Committee for Orphan Medicinal Products
Consultation launched on inventory of paediatric cardiovascular medicines

National & International Policy Developments
Appraisal of medicinal products for very rare conditions moves to England’s National Institute for Health and Clinical Excellence
New article describes Australia’s progress in creating a national rare disease plan
Dutch government debates reimbursement policies for expensive lysosomal storage disease products
Other European news
French website now available in English language could serve as a source of inspiration
New publication maps the rare disease resources available in Madrid
New funding mechanism in the Netherlands seeks to bridge gap between fundamental research and therapies for rare diseases
Other International News
International haemophilia congress enjoys a record turnout as participants gather to celebrate the fiftieth anniversary of the World Federation of Hemophilia
Centers for Mendelian Genomics apply next-generation sequencing and computational approaches to identify the genes and variants underlying Mendelian conditions
Prenatal and neonatal screening practices increasing in low- and middle-income countries
Guidance Documents and Recommendations
Society for Inherited Metabolic Disorders issues statement on investigational new medicines for rare diseases
Haemophilia: guidelines from the World Federation of Hemophilia
International consensus statement on standard of care for congenital myopathies

New Syndromes
A new primary immunodeficiency associated with STK4 mutations
A progressive polyepiphyseal dysplasia with arthropathy distinct from the genetic inflammatory/rheumatoid-like osteoarthropathies known to date
Hereditary systemic amyloidosis due to Asp76Asn variant β2-microglobulin causing visceral amyloid deposits
A 5q31.3 microdeletion syndrome characterized by hypotonia, feeding difficulties, respiratory distress, developmental delay and distinctive facial features
Facial palsy, hearing loss, and dysmorphic features due to a human HOXB1 mutation inducing the Hoxb1-/- mice phenotype

New Genes
PIK3CA mutational spectrum at cause in several diseases with various tissues overgrowth
Cantu syndrome: dominant missense mutations in or near the transmembrane domains of ABCC9 result in a KATP channel opening
IMAGe syndrome: mutations in the PCNA-binding domain of CDKN1C inhibit growth through loss of interaction between these two genes
Familial glucocorticoid deficiency: knockdown of NNT highlights its primary importance for ROS detoxification in adrenocortical cells
Nevus sebaceus syndrome due to postzygotic HRAS and KRAS mosaic mutations
3-methylglutaconic aciduria type 4: SERAC1 mutations impair mitochondrial function and intracellular cholesterol trafficking
GATA1 mutations impair erythropoiesis and expand the genetic basis of Blackfan-Diamond disease
Rare hereditary thrombophilia: a prothrombin mutation induces thrombosis through antithrombin resistance
Mutations in MBD5, MLL3, SMARCB1, and NR113, all epigenetic regulators interacting directly or not with EHMT1, involved in the Kleefstra syndrome spectrum
Spinal muscular atrophy associated with progressive myoclonic epilepsy: ASAH1 mutations inducing moderate reduction of acid-ceramidase activity at cause
Pityriasis rubra pilaris : the familial form associated with mutations in CARD14, a regulator of NF-κB also mutated in familial psoriasis
Congenital myasthenic syndromes: DPAGT1 mutations disrupt glycosylation and export of acetylcholine-receptors and cause a limb-girdle type
Infantile neuronal ceroid lipofuscinosis associated with a mutation in KCTD7 that might alter protein-degradation systems
PIGO mutations strengthen the role of GPI-anchor in hyperphosphatasia intellectual deficiency syndrome
Distal hereditary motor neuropathy type 5: a mutation found in REEP1 broadens the spectrum of motor neuron diseases linked to defects in this gene
CDG syndrome: TMEM165 mutations causes Golgi glycosylation defects
Juvenile idiopathic arthritis: identification of novel susceptibility loci conferring also rheumatoid arthritis risk
Familial isolated hypertrophic cardiomyopathy: FHL1 mutations suggest a mechanism of toxic mutants accumulation due to proteasome impairment
Mutations in ST18, involved in apoptosis, predispose to Pemphigus vulgaris in a population-specific manner
EXOC8 gene associated with Joubert syndrome and GFM2 with Wolcott-Rallison syndrome
A de novo homoplasmic mitochondrial tRNA mutation involved in a fatal neonatal lactic acidosis due to severe respiratory chain deficiency

Research in Action
Clinical study recruits alkaptonuria (AKU) patients to evaluate new medicine
Fundamental Research
WHIM syndrome: proper desensitization of CXCR4 required for lymphocyte development and peripheral compartmentalization in mice
Acquired thrombotic thrombocytopenic purpura: prophylactic and therapeutic effects of a recombinant human ADAMTS13 in a mouse model
Charcot-Marie-Tooth disease type 1B: a mouse model with a MPZR98C mutation suggests a link between MpzR98C accumulation in ER and myelination delay
Myophosphorylase deficiency: a new knock-in mouse model replaces the wild-type allele of Pygm with a modified allele carrying the common human mutation, p.R50X
Hutchinson-Gilford progeria syndrome: protection of neural cells appears to derive from a specific miR-9 expression reducing prelamin A presence
Huntington disease: overexpression of Rab11, a key actor of endosomal recycling, reverses signs of early synaptic dysfunction
Lyme disease: spirochete antigens persist near cartilage after treatment in mouse and could contribute to antibiotic-refractory Lyme arthritis
Acrodermatitis enteropathica, zinc deficiency type: knockout of ZIP4 in mouse disrupts the intestinal stem cell niche and the villus enterocyte integrity
Lysosomal ARSG sulfatase deficiency results in heparan sulfate storage and mucopolysaccharidosis type 3 phenotype in mice
Clinical Research
Takayasu arteritis: TNF inhibitors induce remission in cases refractory to immunosuppressants but with some relapses and adverse effects
Immune thrombocytopenic purpura: 25% of adults and children maintain their platelet count at least 5 years after rituximab therapy
Follicular lymphoma: nonmyeoloablative stem cell transplantation following chemotherapy induces complete long-term response after relapse
Higher proportion of Upshaw-Schulman syndrome cases with pregnancy-onset thrombotic thrombocytopenic purpura than in adult-onset
Pixantrone is an efficacious and tolerable single-agent salvage therapy for patients with relapsed or refractory aggressive non-Hodgkin lymphoma
Temozolomide alone as good as radiotherapy alone for elderly patients with malignant glioma but MGMT promoter methylation status has to be taken into account
Arginine supplementation improves cognitive and linguistic capacities in children with X-linked creatine transporter deficiency
Ciclosporin A is safe and may partially reverse the clinical deterioration in patients with early and/or progressive tropical spastic paraparesis
Beneficial effect of pioglitazone in mice with amyotrophic lateral sclerosis not observed when combined with riluzole in a study in humans
Stem Cells
Autosomal recessive limb-girdle muscular dystrophy type 2D: genetically corrected IPSC-derived mesangioblasts enhance motor capacity in mice
Gene Therapy
Duchenne muscular dystrophy: gene transfer of claudin-5 can prevent or improve cardiomyopathy in mouse
Therapeutic Approaches
Infantile neuronal ceroid lipofuscinosis: a gene therapy combined with bone marrow transplantation increases lifespan and improves motor function in mice
Fragile X-associated tremor/ataxia syndrome: allopregnanolone can mitigate burst firing patterns in a concentration-dependent and reversible manner in mouse
Friedreich ataxia: IFNγ increases frataxin expression in DRG neurons, protects them and improves sensorimotor functions in a murine model
Tuberous sclerosis: prevention of associated neurodevelopmental abnormalities by perinatal rapamycin treatments
Niemann-Pick disease type C: ryanodine receptor antagonists ameliorate lipid storage in patients fibroblasts
Hemophilia B: a short course of immunosuppression results in eradication of anti-human F IX after a therapeutic gene transfer in macaques
Huntington disease: transient huntingtin mRNA silencing provides sustained phenotype reversal in mice and monkeys
Osteogenesis imperfecta type 4: a proteasome inhibitor ameliorates both osteoblast differentiation in vitro and bone properties in mice
Duchenne muscular dystrophy: recombinant human MG53, an actor of cell membrane repair, decreases muscle pathology in a murine model
Fibrodysplasia ossificans progressive: silencing targeting ALK2 mutants restores normal levels of osteogenic differentiation in stem cells of patients
Diagnostic Approaches
Screening of immunodeficiency with factor I anomaly should be performed for patients with low C3 fragments levels and recurrent bacterial infections
A cost-effectiveness analysis in favor of implementation of newborn screening of medium chain acyl-CoA dehydrogenase deficiency in France
Pulse oximetry screening for congenital heart malformations in asymptomatic newborns

Patient Management and Therapy
Cushing disease: a review summarizing potential pathophysiological mechanisms, diagnostic approaches, and therapies
Four standardized consensus treatment plans intended to optimize effectiveness of systemic-onset juvenile idiopathic arthritis management
Autosomal dominant optic atrophy: a review on clinical aspects, genetics, diagnosis and prognosis
X-linked adrenoleukodystrophy: a review on phenotypes, diagnosis, and management
Primary amyloidosis: a review on clinical description, diagnosis, and management
Guillain-Barre syndrome: a review
Cholera: from causative agent to prevention
Babesiosis: an emerging health risk in several parts of the world
Three new Clinical Utility Gene Cards available

Orphan Drugs
Regulatory News
14 positive opinions recommending orphan designation in July and 12 more in September from the COMP
Political and Scientific News
America takes the gold when it comes to review times for novel therapeutics

The European Clinical Research Infrastructures Network (ECRIN) issues call supporting multinational extension of rare disease clinical trials

Courses & Educational Initiatives
European Cytogeneticists Association Courses
Online Master of Science in Haemoglobinopathy
Goldrain Courses in Clinical Cytogenetics and Prenatal Genetic Diagnosis
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?
Joint DIA/ EFGCP/ EMA Medicines for Children Conference on Development of Paediatric Medicines: From Learning to Adapting
15th Biennial 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
Orphan Drugs & Rare Diseases Conference
Days of Molecular Medicine 2012 Conference: The Translational Science of Rare Diseases - From Rare to Care
15th Society for the Study of Behavioural Phenotypes International Research Symposium and Education Day: Social Phenotypes in Genetic Disorders
FDA/EMA Orphan Product Designation and Grant Workshop
2nd Annual U.S. Conference on Rare Diseases and Orphan Products
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
41st European Society of Clinical Pharmacy Symposium: Personalised and Safe Therapy
International Ataxia Research Conference
8th International Society for Newborn Screening European Regional Meeting
6th International Symposium on Childhood MDS and Bone Marrow Failure syndromes
3rd Annual World Orphan Drug Congress
10th Asia-Pacific Conference on Human Genetics
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
A new book provides a comprehensive overview of the paraneoplastic syndromes

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