Fwd: Orphanews Europe 19 October 2011

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José Antonio Navarro

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Oct 19, 2011, 4:39:51 AM10/19/11
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Os reenvío el último boletín de OrphaNews, por si alguna de las noticias contenidas fuera de vuestro interés. Simplemente recordar que sólo se distribuye en inglés.

Saludos.


OrphaNews Europe : 19 October 2011
 
Editorial
EUCERD/EMA workshop drives forward a public-private partnership model for rare disease registries

 
EUCERD update
New EUCERD report takes stock of the pilot European reference networks in the field of rare diseases

 
EU Policy News
White paper finds European biomedical research doing well – recommendations echo rare disease research findings
Nordic researchers' Open Letter draws attention to Data Protection law changes potentially harmful to rare disease research
 
EMA
EMA invites expressions of interest for membership to its Committee for Orphan Medicinal Products and other committees
New database of European experts available from the EMA provides information on declarations of interest
EMA’s Committee for Orphan Medicinal Products announces initiative to publish prevalence information

 
National & International Policy Developments
Newborn screening at Italy’s Santa Croce di Fano hospital to increase from three to 50 rare disorders
 
Other European news
UK Sjogren syndrome registry provides lessons for rare disease registry design
First UK tissue bank specifically for brain tumours launches in Scotland
 
Other International News
Egypt boasts world’s largest newborn screening laboratory
New computerised family history tool helps health professionals to improve prenatal screening process for inherited conditions

 
Ethical, Legal & Social Issues
Parents of children with disorders of sexual development seek a sense of harmony

 
Orphanet News
 
New Texts
New Orphanet Journal of Rare Diseases publications

 
New Syndromes
Autosomal-dominant adermatoglyphia caused by a mutation in a skin-specific isoform of SMARCAD1
Pyoderma gangrenosum, acne, and suppurative hidradenitis: a new autoinflammatory syndrome
X-linked intellectual deficit with alacrima and achalasia
A nonsyndromic severe myopia with variable expressivity of cataract and vitreoretinal degeneration linked to a LEPREL1 mutation
A new mitochondria-related disease showing myopathy with episodic hyper-creatine kinase-aemia

 
New Genes
Hypomyelinating leukodystrophies: POLR3A, encoding a catalytic subunit of RNA polymerase Pol III, is mutated in recessive forms
Familial Parkinson disease: EIF4G1 mutations cause familial autosomal dominant form
Autosomal recessive nonsyndromic intellectual deficit: ST3GAL3 as new causal gene
Familial biparental hydatidiform mole: implication of c6orf221
Congenital cataract, corneal opacity, and developmental glaucoma: homozygous mutations in PXDN responsible
Narcolepsy with cataplexy: a missense mutation in myelin oligodendrocyte glycoprotein (MOG) found in a large family
Combined malonic and methylmalonic aciduria: ACSF3, encoding a putative methylmalonyl-CoA and malonyl-CoA synthetase, at cause
Familial isolated arrhythmogenic right ventricular cardiomyopathy: titin variations responsible in some families
Noonan-like syndrome: disruption of MYST4 causes short stature, blepharoptosis, and attention deficit hyperactivity disorder
Oligodendroglioma: somatic mutations in CIC and FUBP1 suggest a critical role for these genes
Meningioma: common variation at 10p12.31 near MLLT10 influences disease risk
Hepatocellular carcinoma: somatic inactivating mutations in ARID2

 
Research in Action
 
Fundamental Research
Cystic fibrosis: rescue of ΔF508-CFTR trafficking via a GRASP-dependent unconventional secretion pathway
X-linked adrenoleukodystrophy: patient-derived iPSCs recapitulate the key events of disease development
Delta-beta thalassaemia and HPFH: identification of a functional element necessary for fetal haemoglobin silencing
Amyotrophic lateral sclerosis: astrocytes from familial and sporadic patients are toxic to motor neurons
Centronuclear myopathy: mice lacking microRNA 133a develop dynamin 2–dependent disease
Pure autonomic failure: decreased vesicular uptake appears to underly the accelerated loss of intra-neuronal catecholamines
 
Clinical Research
X-linked adrenoleukodystrophy: efficacy of allogeneic haematopoietic cell transplantation for childhood cerebral disease
Wiskott-Aldrich syndrome: long-term outcome in 194 patients treated by haematopoietic cell transplantation
Acquired aplastic anaemia: confirmation of benefit of alemtuzumab-based regimen for allogeneic stem cell transplantation
Acquired thrombotic thrombocytopenic purpura: safety and efficacy of rituximab with plasma exchange in acute disease
Myelofibrosis: everolimus as single agent appears safe and effective in a phase 1/2 study
Friedreich ataxia: idebenone may offer neurological benefit in paediatric patients
Gliomatosis cerebri: procarbazine and lomustine chemotherapy as a promising option for primary treatment
 
Gene Therapy
X-linked severe combined immunodeficiency: long-term persistence of a polyclonal T cell repertoire after gene therapy
ADA-deficient severe combined immunodeficiency: long-term immunological recovery and metabolic correction with gene therapy
 
Therapeutic Approaches
Spinal muscular atrophy: new experiments in mouse models confirm promises of SMN upregulation
Duchenne muscular dystrophy: early treatment with lisinopril and spironolactone preserves cardiac and skeletal muscle in mice

 
Patient Management and Therapy
Sickle cell disease: quality-of-care indicators for children
Juvenile idiopathic arthritis: 2011 American College of Rheumatology (ACR) recommendations for treatment
Paediatric rheumatic diseases: European League Against Rheumatism (EULAR) recommendations for vaccination
Chronic myeloid leukaemia: recommendations from an expert panel for BCR-ABL kinase domain mutation analysis

 
Orphan Drugs
Ethical guidelines to encourage fair distribution of resources for orphan drugs
CHMP recommends marketing authorisation for several orphan products in July
FDA grants accelerated approval for atypical hemolytic uremic syndrome treatment

 
Courses & Educational Initiatives
4th International Postgraduate Course on Lysosomal Storage Disorders: Diagnostic Background and Clinical Therapy
Nursing of Patients with Epidermolysis Bullosa - International Theoretical‐Practical Course
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
Goldrain Courses in Clinical Cytogenetics and Prenatal Genetic Diagnosis
Master of Science in Haemoglobinopathy
Orphan Academy 2011 Programme
EuroGentest Quality Management and Accreditation/Certification of Genetic Testing Workshops

 
What's on Where?
2nd South Caucasian Conference on Rare Diseases and Orphan Drugs
Rare 2011: The Eurobiomed Meetings on Rare Diseases
Treat-NMD Global Conference
Cell Symposia: Autism Spectrum Disorders: From Mechanisms to Therapies
European Wilson Disease Congress
Canadian Congenital Anomalies Surveillance Network (CCASN) – 9th Annual Scientific Meeting
2nd World Orphan Drug Summit
5th International Workshop on AKU (Alkaptonuria)
4th European Symposium on Rare Anaemias
Sixth European Workshop on Immune-Mediated Inflammatory Diseases
6th Eastern European Conference for Rare Diseases and Orphan Drugs
Sanfilippo Foundation Switzerland International Congress
International Congress on Research of Rare and Orphan Diseases
Second ASID Congress of the African Society for Immunodeficiencies
13th International Conference on Neuronal Ceroid Lipofuscinosis and 1st Worldwide Meeting of Batten Disease Int'l Alliance
Fourth International Meeting on Primary Central Hypoventilation Syndromes
First International Symposium on the Ehlers-Danlos Syndrome
3rd Pan-European Conference on Haemglobinopathies and Rare Anaemias: Towards the Future

 
Press & Publications
Close encounters of the rare kind: authors offer physicians advice on diagnosing and managing rare diseases
 
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