Rare DiseaseS

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
Crete.Greece.72100
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