OrphaNews Europe : 14 July 2010
Editorial
National strategy for rare diseases approved in Czech Republic
EU Policy News
European Council agrees to revised cross-border healthcare draft directive
EMA
CHMP chair and vice-chair re-elected for second mandate
EMA Paediatric Committee launches a call for representatives
SME office receives European Mediscience Award
National & International Policy Developments
Sweden establishes a focal point for improving coordination and information for rare diseases
New UK report weighs extending newborn screening to five more rare diseases
A resource with a (re)purpose: the Rare Disease Repurposing Database
OECD Guidelines on Human Biobanks and Genetic Research Databases available online
Other European news
Genetic Interest Group becomes Genetic Alliance UK
Other International News
Molecular testing best practice guidelines developed for Duchenne and Becker muscular dystrophy
Orphanet News
The Orphanet Journal of Rare Diseases does it again! The 2009 Impact Factor climbs to 5.825
New Texts
New Orphanet Journal of Rare Diseases publications
New Syndromes
Mammary-digital-nail syndrome: a novel phenotype mapping to human chromosome 22q12.3-13.1
Grants
Congenital absence of the left pericardium and diaphragmatic defect in two siblings
New syndrome with marked growth restriction, intellectual deficit and absent or severely delayed speech
Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children
New Genes
Reynolds syndrome: LBR mutation and nuclear envelope defects in an affected patient
Schinzel-Giedion syndrome: De novo mutations of SETBP1 at cause
Seckel syndrome: CENPJ mutation at cause
Oculo-auriculo-vertebral spectrum: two neighbouring microdeletions of 5q13.2 in a child
Research in Action
Fundamental Research
Neonatal hemochromatosis: novel mechanism of foetal hepatocyte injury involves the terminal complement cascade
Spinocerebellar ataxia type 3: silencing ataxin-3 mitigates degeneration in a rat model
Nance-Horan syndrome protein encodes a functional WAVE homology domain and is important in coordinating actin remodelling
Clinical Research
Arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice
Fragile X syndrome: region-specific alterations in brain development in one- to three-year-old boys
Guillain-Barré syndrome: prediction of respiratory insufficiency
Osteogenesis imperfecta: genotype-phenotype correlations in nonlethal form caused by mutations in the collagen helical domain
Therapeutic Approaches
Waldenstrom macroglobulinemia: anti-tumour therapy via selective proteasome inhibition
Mucopolysaccharidosis IV: enhancement of enzyme-replacement therapy drug delivery
Diagnostic Approaches
Juvenile idiopathic arthritis: synovial fluid proteins differentiate between the subtypes
Patient Management and Therapy
Lynch syndrome: one to two-year surveillance intervals reduce risk of colorectal cancer in families
Amyotrophic lateral sclerosis: combining lithium with riluzole does not slow disease progression
Dravet syndrome: effects of vaccination on disease onset and outcome
Juvenile idiopathic arthritis: long-term safety and efficacy of abatacept in children
Orphan Drugs
Pfizer to create rare disease research unit
Positive opinions adopted at the June CHMP meeting for the treatment of angioedema attacks and Gaucher disease
Orphan drug approvals, withdrawals and shortages from the FDA
Two orphan treatments receive the Prix Galien France 2010
Grant monies available for Neuronal Ceroid Lipofuscinosis research
Chronic Granulomatous Disorder Research Trust call for applications
News from the Patients' Associations
Jimmyteens.tv gives young cancer patients their own forum for expression
Courses & Educational Initiatives
4th Inborn Errors in Neonatology Course
EuroGentest Quality Management and Accreditation/Certification of Genetic Testing Workshops
What's on Where?
2th International Congress on Neuromuscular Diseases
International All Star Vasculitis Symposium
FDA Orphan Drug Workshop
26th International Congress of Pediatrics
The Tuebingen Outer Retina Conference
2nd Congress of the European Society for Paediatric Anaesthesiology
International Society for Cellular Therapy (ISCT Europe) Second Regional meeting
MEN 2010: 12th International Workshop on Multiple Endocrine Neoplasia
Second AnEUploidy Workshop
International Data Sharing Conference
First European Conference on Lymphangioleiomyomathosis (LAM)
International Meeting on Fibrous Dysplasia of Bone/McCune-Albright Syndrome: Best Clinical Practice and Future Research
XIV Meeting of the European Society for Immunodeficiencies and IX Meeting of the Int’l Nursing Group for Immunodeficiencies
2nd European Rett Syndrome Conference
15th International Congress of World Muscle Society
26th Annual Meeting of the Histiocyte Society
Pemphigus & Pemphigoid: From the Bench to the Bedside
11th EPPOSI workshop on rare disease therapy development workshop
4th International Meeting on the congenital disorders of glycosylation and related disorders
Press & Publications
A Guide to Human Gene Therapy