Fwd: Orphanews Europe 28 February 2013

1 view
Skip to first unread message

José Antonio Navarro

unread,
Feb 28, 2013, 5:44:53 PM2/28/13
to
En el día dedicado a las enfermedades raras, el boletín de Orphanews (solo disponible en inglés).

Saludos a todos en este día tan especial.
---------- Forwarded message ----------
From: <orphanew...@orpha.net>
Date: 2013/2/28
Subject: Orphanews Europe 28 February 2013
To: jana...@yahoo.es


OrphaNews Europe : 28 February 2013
 
Editorial
The rare disease community around the globe join hands today for a better future

 
Spotlight on...
Save the date: The first International Rare Disease Research Consortium Conference in Dublin

 
EU Policy News
 
EMA
European Medicines Agency reports on small and medium sized enterprise related activities
 
Other International News
 
Bioinformatics, Registries and Data Management
Characteristics of Niemann-Pick disease type C validated using registry
 
Screening and Testing
Rethinking responsibilities of clinicians in the new age of comprehensive testing
Do parents want to know the Cystic Fibrosis carrier status of their child?
Countrywide study on providing Down syndrome screening for pregnant women in France

 
Ethical, Legal & Social Issues
Survey analysing support provided to rare disease families in Australia
Website provides support to those undergoing predictive testing for Huntington Disease

 
Orphanet News
Orphanet has just released its mobile application!
Now available: comprehensive and updated list of orphan medicinal products

 
New Syndromes
A new autoimmune disorder associating antibodies against DPPX, encephalitis and prodromal diarrhea
Chronic haemolysis and relapsing peripheral demyelinating neuropathy in five infants with CD59 deficiency

 
New Genes
Primary ciliary dyskinesia: CCDC114 mutations impair respiratory function and sometimes laterality, but does not appear to greatly affect fertility
Distal arthrogryposis type 5: ECEL1 mutations involved in an autosomal recessive form without ophtalmoplegia
Cowden syndrome: germline gain-of-function PIK3CA and AKT1 mutations found in 11% of patient without detected PTEN/SDHx/KLLN mutation/alteration
Opsismodysplasia: INPPL1 mutations found in cases with or without renal phosphate wasting
Congenital stationary night blindness: LRIT3 mutations involved in an autosomal recessive complete form
Isolated Klippel-Feil syndrome: homozygous truncating MEOX1 mutations associated with an autosomal recessive form
Hypotrichosis simplex: SNRPE mutations cause an autosomal dominant form
Familial hypocalciuric hypercalcemia type 3: three different AP2S1 mutations involving solely the Arg15 residue disturb extracellular calcium homeostasis
Vici syndrome: EPG5 mutations suggest a role of other genes involved in autophagy
Primary torsion dystonia: GNAL mutations induce a variable, predominantly cervical, phenotype
Acute megacaryoblastic leukemia: chromosome 16 inversion encoding CBFA2T3-GLIS2 fusion protein defines a pediatric subgroup with poor outcome
Neuroblastoma: ARID1A and ARID1B mutations associated with early therapy failure and decreased survival
Atypical chronic myeloid leukemia: patients with SETBP1 mutations have higher white blood cell counts and worse prognosis compared to other cases
Tetralogy of Fallot: a GJA5 mutation found in two patients, one with the classic form, the other with pulmonary atresia
Postaxial polydactyly type A: a ZNF141 mutation transmitted in an autosomal recessive manner in a consanguineous family
Congenital communicating hydrocephalus: MPDZ mutations identified in severe cases
Childhood apraxia of speech: a predisposing 12p13.33 microdeletion suggesting a role of ELKS/ERC1
Axonal peripheral neuropathies: a possible role of HARS mutations

 
Research in Action
 
Clinical Research
Tuberous sclerosis: everolimus is efficient against growth of subependymal giant cell astrocytomas
Familial hypertrophic cardiomyopathy: early screening of child relatives is relevant as well as follow-up of cases at risk for late form
Homozygous familial hypercholesterolemia: given in addition to lipid-lowering therapy, lomitapide reduces LDL-cholesterol and ApoB levels
Adult hepatocellular carcinoma: tivantinib can be second-line treatment for advance cases, particularly those with MET-high tumors
Systemic-onset juvenile idiopathic arthritis: tocilizumab and canakinumab efficient on active forms but with safety profiles difficult to assess
 
Stem Cells
Proximal spinal muscular atrophy: improved phenotype and lifespan in mice treated with motor neurons derived from genetically corrected patients iPSCs
Amyotrophic lateral sclerosis: transplantation of multipotent NSCs into the spinal cords of a mouse model attenuates disease symptomatology and course
 
Gene Therapy
Canavan disease: long-term follow-up after gene therapy shows decreased seizure frequency and clinical stabilization, and a need for very early treatment
Leber hereditary optic neuropathy: intravitreal injection of AAV-NDI1 significantly reduced retinal ganglion cells death and optic nerve atrophy in mouse
 
Therapeutic Approaches
Charcot-Marie-Tooth disease type 1B: improved phenotype in mice treated with curcumin dissolved in sesame oil or formulated with phosphatidylcholine
Idiopathic and/or familial pulmonary arterial hypertension: preventive and curative effect of chemical chaperones attenuating endoplasmic reticulum stress
Glioblastoma : a bispecific antibody targeting tumor cells expressing EGFRvIII without the risk of cross-reactivity with normal tissues in vitro and in mice
Duchenne muscular dystrophy: a recombinant Wnt7a protein stimulates regeneration of dystrophic muscles in a mouse model
Duchenne muscular dystrophy: dantrolene enhances the efficiency of therapeutic exon skipping and improves muscle strength in mice
 
Diagnostic Approaches
Autosomal recessive nonsyndromic sensorineural deafness: a new approach could lead to a genetic diagnosis in 50% of cases

 
Patient Management and Therapy
Inherited ichthyoses/generalized Mendelian disorders of cornification: a practical genetics review
Acute angioedema: recognition and management in the emergency department
Familial lipoprotein lipase deficiency: a review on gene therapy with alipogene tiparvovec
Hyperoxalurias: an update on current therapy and future strategies
Mesothelioma: focus on the systemic management of patients who are not considered suitable for surgical approaches and on new first or second-line therapies
Syndromic diarrhea: a review
Cardiac channelopathies: from mechanisms to management
Mitochondrial DNA diseases: an overview of cardiac involvement
Glial tumors: molecular diagnostics and their implications in management of infantile forms
Polycythemia vera: maintaining a haematocrit target of less than 45 significantly reduces rate of thrombotic complications
Retinopathy of prematurity: current, new, and potential therapies
Malignant atrophic papulosis: a review

 
Orphan Drugs
Inherited ichthyoses/generalized Mendelian disorders of cornification: a practical genetics review
 
Regulatory News
Retinal implant for patients suffering from retinitis pigmentosa: approved by FDA

 
Partnersearch, Job Opportunities
Research Associate/ Postdoctoral Scientist: to lead on impact activities for EU network

 
What's on Where?
3rd Annual World Orphan Drug Congress
First GENCODYS International Conference: Integrative Networks in Intellectual Disabilities
International Rare Diseases Research Consortium Conference 2013
World Federation of Hemophilia 13th International
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
12 th European Symposium on Congenital Anomalies
10th HHT Scientific Conference
World Orphan Drug Congress Asia
6th International Conference on Children's Bone Health
9th European Cytogenetics Conference
8th International Prader-Willi Syndrome Conference
2nd Conference of 'EB-CLINET - Clinical Network of EB Centres and Experts'
Mitochondrial Disease: Translating biology into new treatments
Thalassemia International Federation World Congress
First International Primary Immunodeficiencies Congress (IPIC)
 
Unsubscribe

Reply all
Reply to author
Forward
0 new messages