Fwd: Orphanews Europe 21 December 2011

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José Antonio Navarro

Dec 23, 2011, 4:47:29 AM12/23/11

Nuevo boletín de Orphanews, como siempre por sí algo pudiera ser de interés alguno de los aspectos tratados.
También con mis deseos de una feliz navidad y un próspero 2012 para todos en lo personal y en cuanto a las enfermedades raras se refiere.

---------- Mensaje reenviado ----------
De: <orphanew...@orpha.net>
Fecha: 22/12/2011 02:29
Asunto: Orphanews Europe 21 December 2011
Para: <jana...@yahoo.es>

OrphaNews Europe : 21 December 2011
2011 draws to a close on a note of optimism as the pace of rare disease research quickens and initiatives move forward on several fronts

EUCERD update
Warm holiday wishes from the European Union Committee of Experts on Rare Diseases

EU Policy News
New report on clinical added value of orphan drugs in the EU now available
DG Sanco issues 2012 Work Plan; related calls for proposals now open

National & International Policy Developments
« Ultra-orphan » Act proposes fast-track incentives for low-prevalence rare diseases in the USA
Spanish rare disease research network Ciberer issues 2010 activity report and defines its strategy for 2012
Revised screening standards for sickle cell disease and thalassaemia in the UK
Other International News
Parlez-vous genetics?
First rare disease summer school for Russian stakeholders brings awareness of the added-value of rare disease initiatives
Taiwan faces destruction of millions of biospecimens; and helps a rare disease patient from China

Ethical, Legal & Social Issues
Stem cell patent ban draws mixed responses from researchers in Europe

EU Project Follow-up
Network of Excellence CliniGene releases video on gene therapy

Orphanet News
The Orphanet annual online survey seeks feedback to make the rare disease and orphan drug information portal the best it can be!
New Texts
New Orphanet Journal of Rare Diseases publications

New Syndromes
Hypermethioninaemia, encephalopathy, and abnormal liver function caused by adenosine kinase deficiency
A syndrome of neonatal-onset inflammatory skin and bowel disease linked to ADAM17 loss-of-function mutation
Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus
Megacystis, megacolon, and malrotation may be a new syndromic association

New Genes
Isolated NADH-CoQ reductase deficiency: a nonsense NDUFA12 mutation identified in a patient
Neural tube defects: association of mutations in the planar cell polarity gene, Fuzzy
Juvenile amyotrophic lateral sclerosis: a sigma-1 receptor mutation at cause in a family with autosomal recessive inheritance
Restrictive cardiomyopathy: mutations in sarcomere genes TPM1, MYL2, and MYL3 can be associated
Melanoma and renal cell carcinoma: a SUMOylation-defective MITF germline mutation predisposes to both cancers

Research in Action
Fundamental Research
Proximal spinal muscular atrophy: intrinsic pathology of skeletal muscle is an important event, reversible in a mouse model
Glycogen branching enzyme deficiency: a novel mouse model recapitulates early and adult onset diseases
Shwachman-Diamond syndrome: defective ribosome biogenesis underlies the pathogenesis
Rett syndrome: MeCP2 mutations affect large scale chromatin organisation
Huntington disease: H2AFY is a potential biomarker associated with disease activity and pharmacodynamic response
Sandhoff disease: rAAV2/1-Hex gene therapy improves outcome by preventing neuronal loss in the brain of model mice
Clinical Research
Immune thrombocytopenic purpura: 2-year results of a compassionate-use programme confirm safety and efficacy of romiplostim
Primary amyloidosis: long-term results after high-dose melphalan and autologous stem cell transplantation for 421 patients
Neurofibromatosis type 1: reduction in life expectancy found to be around eight years in a British study
Pulmonary hypertension: epidemiology and characterisation of paediatric cases in the Netherlands
Craniopharyngioma: use of combined search criteria improved validity of case retrieval in a general disease registry
Ovarian cancer: BRCA2 mutation associated with improved survival, chemotherapy response, and genome instability
Autosomal recessive nonsyndromic intellectual deficit: 11 novel loci identified, confirming high heterogeneity
Stem Cells
Alpha-1 antitrypsin deficiency: proof of principle for combining induced pluripotent stem cells and targeted gene correction
Gene Therapy
B-cell leukaemias: promising results with chimeric antigen receptor-modified T cells in advanced CLL or relapsed ALL
Leber congenital amaurosis: safety and efficacy of gene therapy in 15 children and adults followed up to 3 years
Hutchinson-Gilford progeria syndrome: remarkable effects of splicing-directed therapy in a new mouse model
Cystic fibrosis: pre-clinical evaluation of three non-viral gene transfer agents after aerosol delivery to the ovine lung
Therapeutic Approaches
Glioblastoma: targeted nanoparticle enhanced proapoptotic peptide shows promise in mouse models
Glioma: epileptic activity can be reduced by a drug blocking a glutamate transporter in glioma-bearing mice
Rapidly progressive glomerulonephritis: targeting the HB-EGF-EGFR pathway could be beneficial
Diagnostic Approaches
Duchenne and Becker muscular dystrophies: comprehensive mutational search using next-generation sequencing technology

Patient Management and Therapy
Primary cutaneous CD30+ lymphoproliferative diseases: international consensus recommendations for disease management
Angiosarcoma: state of the art and perspectives
Three new Clinical Utility Gene Cards available

Orphan Drugs
The COMP wraps up 2011 with nine positive opinions in December recommending orphan designation
FDA approves two rare disease treatments and takes heat from consumer group for approving another
Clinical pharmacology as a cornerstone of orphan drug development

Courses & Educational Initiatives
ESH-ENERCA Training Course: Diagnosis and Management of Very Rare Anaemias
European Cytogeneticists Association Course
Tenth European Course on the Evaluation of Medicinal Products in Children
The European School of Genetic Medicine celebrates its 25th anniversary with special courses
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?
2nd Annual Optimising Orphan Drug Development Conference
VII International Conference on Rare Diseases and Orphan Drugs (ICORD)
Rare Cancers Conference: Improving the Methodology of Clinical Research
International Congress on Research of Rare and Orphan Diseases
Second ASID Congress of the African Society for Immunodeficiencies
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
CILIA 2012 - Cilia in Development and Disease
6th European Conference on Rare Diseases & Orphan Products
10th International primary hyperoxaluria workshop
European Human Genetics Conference 2012
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

Press & Publications
New monograph from the European Respiratory Society focuses on orphan lung diseases
Rare diseases in an emergency setting
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