OrphaNews Europe : 10 October 2015
Editorial
RD-ACTION: the new European Joint Action
Spotlight on...
Working for rare diseases: EUCERD Joint Action draws to a close and looks to the future
EU Policy News
EMA
Submit expressions of interest to represent civil society at the EMA
National & International Policy Developments
Comprehensive policy for patients with rare diseases in Philippines
Other European news
The rare disease persons card implementation in Portugal
Sample of the adult British population want genetic testing of children for adult-onset conditions
Sample of Danish population want disclosure of incidental findings from NGS studies
Other International News
Discussion paper by the Australian government to support people with chronic and complex health conditions
Contradictions of public health policies geared to rare disorders in Brazil
Sickle cell disease among children in Africa
Guidance Documents and Recommendations
22q11.2 deletion syndrome: guidelines for the management
Cushing syndrome: guidelines on treatment
Congenital hypogonadotropic hypogonadism: European consensus statement on diagnosis and treatment
Pemphigus vulgaris/foliaceus and bullous pemphigoid: guidelines for the treatment
Facioscapulohumeral dystrophy: guidelines on evaluation, diagnosis and management
Bioinformatics, Registries and Data Management
How do paediatric biobanks look at various aspects of obtaining consent from the paediatric population
Long tail economics and rare disease research: the impact of next generation sequencing for rare mendelian disorders
Screening and Testing
Regulating laboratory developed tests in the United States: the current controversy
Article reviewing the limits of FDA's authority to regulate laboratory developed diagnostic tests
Newborn screening in Australia: current environment and future perspectives
Patenting Genetic diagnostic methods
Ethical, Legal & Social Issues
Living with Marfan syndrome: the patients view
New Syndromes
Developmental delay, microcephaly and hypomyelination associated with mutations in SLC1A4
Novel oculo-skeletal syndrome with intellectual disability caused by a MAB21L2 mutation
Syndromic intellectual disability with variable clinical presentation due to mutations in DDX3X
Novel 3q28 microdeletion phenotype leading to haploinsufficiency of TP63
New type of lysosomal storage disease characterized by spastic paraplegia, neuropathy, parkinsonism and/or cognitive impairment linked to AP5Z1 mutations
Progressive myoclonus epilepsy with early ataxia caused by mutation of LMNB2
Intellectual disability, hypotonia, epileptic susceptibility, frontal bossing, mild hypertelorism, and palpebral fissures caused by PPP2R5D and PPP2R1A mutations
New Genes
Rett syndrome-like phenotype caused by a de novo deletion of PTPN4 in identical twins
22q11.2 deletion syndrome: PRODH, ADNP2 and ZFPM2 involved in the phenotype
X-linked intellectual disability due to THOC2 mutations in four families
Lethal ciliopathies ranging from hydrolethalus to short rib-polydactyly syndrome, Majewski type and Beemer-Langer type, caused by mutations in KIAA0586
Coenzyme Q10 deficiency linked to an alteration in COQ2 in a patient
Severe epileptic encephalopathy and complex movement disorder due to compound heterozygous mutations in CARS2 in a child
Overgrowth syndrome linked to de novo mutations in PPP2R5B, PPP2R5C and PPP2R5D
Non-syndromic early-onset cone rod dystrophy associated with mutations in ALMS1 in a family
Megacystis-microcolon-intestinal hypoperistalsis syndrome caused by a homozygous loss-of-function variant in MYH11
Heterotaxia and situs inversus totalis associated with a homozygous WDR16 deletion
Familial idiopathic steroid-resistant nephrotic syndrome caused by COL4A3 mutations
Small cell lung cancer: somatic mutations in TP53, TP73 and RB1
Clear cell sarcoma of the kidney due to consistent in-frame internal tandem duplications of BCOR
Fetal akinesia deformation sequence: homozygosity mapping in two fetuses revealed MUSK as a candidate gene
Language impairment, autism spectrum disorder and intellectual disability might be associated with ELP4 deletions
Keratoconus: WNT10A exonic variant increases the risk of disease
Research in Action
Clinical Research
Dravet syndrome: vaccination-associated seizure onset does not affect disease course, while the risk of subsequent vaccination associated seizures seems vaccine-specific
Progressive familial intrahepatic cholestasis type 2: improvement of cholestasis with 4-phenylbutyrate
Alpha-1-antitrypsin deficiency: purified α1 proteinase inhibitor augmentation treatment slows progression of emphysema
Recessive dystrophic epidermolysis bullosa: promising efficacy and tolerance with systemic allogeneic mesenchymal stromal cell therapy
Facioscapulohumeral dystrophy: regular aerobic training with or without post-exercise protein-carbohydrate supplementation improves fitness
Extranodal nasal NK/T cell lymphoma: Epstein-Barr virus latent membrane protein 1 and 2a transfer as a safe and effective post-remission therapy
Biliary tract cancer: cediranib in combination with cisplatin and gemcitabine does not improve the progression-free survival of patients
Paraganglioma in pregnancy: a case series and review of the literature
Salla disease: 13-year follow-up of Finnish patients
Therapeutic Approaches
Jervell and Lange-Nielsen syndrome: review on human induced pluripotent stem cell models
Huntington disease: fingolimod enhances hippocampal synaptic plasticity and memory in mice
Ebola hemorrhagic fever: aerosolized vaccine protects macaques exposed to the virus
Dystrophic epidermolysis bullosa: high local concentrations of intradermal mesenchymal stromal cells restore skin integrity and facilitate wound healing in a mouse model
Retinitis pigmentosa: ciliary neurotrophic factor gene therapy confers lifelong neuroprotection in a mouse model
Leber congenital amaurosis and retinitis pigmentosa: mitigated results with adeno-associated virus-mediated gene therapy in mouse models
Duchenne muscular dystrophy: galectin-1 protein therapy prevents pathology and improves muscle function in the mdx mouse model
Steinert myotonic dystrophy: recombinant adeno-associated viral vectors injected intravenously reduce disease pathology in muscles of mice
Fragile X-associated tremor/ataxia syndrome: new inducible mouse model
Diagnostic Approaches
Walker-Warburg syndrome: chromosomal microarray analysis as a first-line diagnostic test in patients with a fetus with one or more major structural abnormalities identified
Distinct optical coherence tomography patterns clearly differentiates Susac syndrome from relapsing-remitting multiple sclerosis
CARASIL: characteristic features and progression of abnormalities on magnetic resonance imaging
Patient Management and Therapy
Cystic fibrosis: review on tiotropium bromide and tobramycin for the treatment
Fanconi anemia: review on gene therapy
Lymphangioleiomyomatosis: review on new treatments
Blepharospasm: review on alternatives to botulinum toxin for the management Id:
Congenital hyperinsulinism: review on molecular mechanisms, therapeutic targets and management
Kawasaki disease: a review
Paediatric rheumatology: review on lessons from oncology to optimize treatment
Metachromatic leukodystrophy: review on hematopoietic stem cell transplantation
B-cell non-Hodgkin lymphoma: review on the treatment
Huntington disease: a review
MECP2 disorders: a review
Glycogen storage disease due to acid maltase deficiency: a review
Congenital generalized lipodystrophies: a review
Ribosomopathies: a review
Duchenne muscular dystrophy: a review
Familial dilated cardiomyopathy: review on diagnosis, prevalence and screening
Tuberous sclerosis: review on pathophysiology
West-Nile encephalitis: a review
Idiopathic interstitial pneumonias with connective tissue diseases features: a review
Primary biliary cirrhosis and primary sclerosing cholangitis: a review
Eosinophilic esophagitis and gastroenteritis: a review
T-cell large granular lymphocyte leukemia: review on pathogenesis and treatment
One new and nine updated GeneReviews published
Orphan Drugs
Analysing the ability of fulfilling the obligations of conditionally approved drugs in Europe
Wanted: new models of pricing and reimbursement for gene therapies
Regulatory News
FDA approves new orphan drug to treat 20 patients worldwide
New treatment option for patients with multiple myeloma
Grants
Medical Research Grant Application Guidelines : Progeria Research Foundation
AFM Telethon: Call for proposals
Neuronal Ceroid Lipofuscinosis Research Award
BMBF Funding initiative: innovative stem cell technologies for personalized medicine
8th Call for SMA research proposals
Partnersearch, Job Opportunities
ECRIN ERIC job vacancies
Civil Society representatives: Call for expression of interest is open for the EMA Management Board
Courses & Educational Initiatives
The 2nd Biennial Australian Rare Lung Disease Short Course
Courses offered by Recordati Rare Diseases Foundation
EMA workshop on demonstrating significant benefit of orphan medicines
European Cytogenetesists Association
EMA workshop on pre-licencing activities
What's on Where?
CLIMB Newborn Screening Conference
Xth Annual ICORD Meeting, part of the Global Rare Diseases Week, Mexico
6th South Eastern European Cystic Fibrosis Conference
NORD Summit
13th Annual Congress Of International Drug Discovery Science & Technology, Therapy And Expo‐2015
The BioData World Congress 2015
6th World Congress on Targeting Mitochondria
The AANEM Annual Meeting
4th European Congress on Rett Syndrome
First European Congress on Hereditary ATTR amyloidosis ECATTR
2nd International Primary Immunodeficiencies Congress (IPIC)
Sixth Croatian Congress of Human Genetics
16th International Conference on Human Genome Variation and Complex Genome Analysis
Statistical analysis of massive genomic data
The Rett Syndrome Journey: Pathways to Follow
6th European Symposium on rare anaemias - 1st Dutch-Belgian meeting for patients and health professionals
International Conference on Sanfilippo Syndrome and related Lysosmal Storage Diseases
Clinical trials in small populations : Methodological challenges and solutions
CDDF-SIOPE-ENCCA-ITCC 4th Paediatric Oncology Conference
CDDF-SIOPE-ENCCA-ITCC 4th Paediatric Oncology Conference
BPSU Rare Disease Conference 2016
Clinical Innovation & Outsourcing
The RE(ACT) Congress
MYOLOGY 2016 Fifth International Congress of Myology
13th International Congress of Human Genetics (ICHG) 2016
8th Alstrom Syndrome International Conference
17th EMSOS Nurse and allied professional Group Meeting
European Association of Centres of Medical Ethics Conference
9th ISNS International meeting/10th ISNS European Regional meeting
ESID European Society for Immunodeficiencies: Biennial meeting
Alexandros Sfakianakis
Anapafseos 5 . Agios Nikolaos
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