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Editorial |
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Ireland and Scotland adopt national rare disease plans and Spain updates its national plan |
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EU Policy News |
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ERRATUM: article on “First Conference on European Reference Networks sheds light on the future of ERNs” published 17 July 2014 |
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Recommendations on improving haemophilia patient management in Italy |
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Haemophilia centre accreditation in Italy could serve as a model for other European countries and other rare diseases |
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European Guidelines for the Certification of Haemophilia Centres |
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National & International Policy Developments |
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National strategies to improve paediatric cancer treatment in low- and middle-income countries |
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Other International News |
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Patient-initiated guidance on clinical development of treatment for Duchenne Muscular Dystrophy |
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NIH partners with American medical universities to accelerate diagnosis of rare diseases |
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A new research organisation dedicated to Down syndrome: Trisomy 21 Research Society (T21RS) |
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Guidance Documents and Recommendations |
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Congenital muscular dystrophy: review of diagnostic approaches made by the International Committee on the Standard of Care for Congenital Muscular Dystrophies |
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Ocular myastheny: European Federation of Neurological Societies and European Neurological Society guidelines for the treatment |
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Hereditary non-polyposis colon cancer: guidelines on genetic evaluation and management from the US Multi-Society Task Force on Colorectal Cancer |
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Idiopathic pulmonary fibrosis: French practical guidelines on diagnosis and management |
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Maple syrup urine disease: nutrition management guideline |
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Bioinformatics, Registries and Data Management |
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The need to build minimum and common data sets to research, diagnose and treat rare diseases more efficiently |
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Internet tools as effective methods to recruit rare disease patients into registries |
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The long road to constituting the Italian national rare disease registry |
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Screening and Testing |
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Next generation sequencing is more rapid and cost effective to diagnose hereditary Alport syndrome |
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Advances in genetic screening tools throw light on genetic causes of epilepsy |
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New Syndromes |
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Novel form of myopathy linked to a homozygous mutation in TOR1AIP1 in a consanguineous family |
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Novel neurodegenerative phenotype associated to a homozygous PCNA missense mutation in a family |
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Tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly due to a homozygous mutation in FGFR3 in two brothers |
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A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement in a large family |
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Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease associated with a missense mutation in PRPS1 in two male siblings |
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Congenital myopathy with fatigable weakness responding to pyridostigimine linked to mutations in RYR1 in two siblings |
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A novel overgrowth condition including macrocephaly, obesity, speech delay and advanced carpal ossification is due to heterozygous mutations in SETD2 in two patients |
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New Genes |
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Autosomal recessive epileptic encephalopathy with seizure onset in the first day of life is caused by heterozygous mutations in SLC13A5 in two families |
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Autosomal recessive cone rod dystrophy due to mutations in POC1B |
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Ectopic progenitors and neuronal heterotopia in mouse and human are linked to mutations in EML1 |
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Limb-girdle muscular dystrophy type 1G caused by mutations in HNRPDL in two families |
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Recessive non-syndromic, prelingual, profound hearing loss due to a splice site mutation in FAM65B in a consanguineous Turkish kindred |
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Blackfan-Diamond anemia caused by RPS29 mutations in two families |
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Blackfan-Diamond anemia with mandibulofacial dystostosis associated with TSR2 and RPS28 mutations |
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46, XY partial gonadal dysgenesis linked to increased gene copy numbers of VAMP7 |
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Behr syndrome is due to homozygous nonsense mutation in C12orf65 in four patients from three unrelated families |
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Impaired neuromuscular transmission is associated with mutations of the SLC25A1 gene |
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Intracranial germ cell tumours linked to JMJD1C germline mutations and to KIT/RAS signaling pathway somatic mutations |
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X-linked recessive intellectual disability with features of 3C syndrome associated with missense variant in CCDC22 in an Austrian family with two affected male children |
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Microphthalmia and anterior segment dysgenesis caused by novel mutations in PXDN |
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Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis |
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Noonan-like syndrome with a variable phenotype ranging from severe to very mild is associated with heterozygous germline mutations in A2ML1 |
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Mitochondrial encephalomyopathies due to VARS2 and TARS2 mutations |
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Genetic variants of the KCNQ1 gene confer a risk of Beckwith–Wiedemann syndrome upon maternal transmission |
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Leri pleonosteosis results from microduplication at 8q22.1 encompassing GDF6 and SDC2 in two families |
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Research in Action |
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Clinical Research |
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Infantile neuronal ceroid lipofuscinosis: combination therapy with cysteamine bitartrate and N-acetylcysteine is beneficial for the patients |
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Sickle cell anemia: non-myeloablative allogeneic hematopoietic stem cell transplantation allows for complete replacement with circulating donor red blood cells |
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Hepatocellular carcinoma: everolimus did not improve overall survival in patients whose disease progressed during or after receiving sorafenib |
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B-cell chronic lymphocytic leukemia: ibrutinib significantly improves progression-free survival and response rate compared to ofatumumab |
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Metastatic enteropancreatic neuroendocrine tumors: lanreotide significantly prolonged progression-free survival |
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Pediatric autoimmune and inflammatory central nervous system diseases: rituximab should be restricted to disorders with significant mortality due to its infectious risk |
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Acquired thrombotic thrombocytopenic purpura: preemptive rituximab infusions after remissions efficiently prevent relapses |
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Phenylketonuria: rAvPAL-PEG is safe and reduces blood phenylalaline concentrations even though it develops antibodies against polyethylene glycol |
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Hutchinson-Gilford progeria syndrome: increased survival with protein farnesylation inhibitors |
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Shared medical appointments improve quality of life in neuromuscular patients |
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Thrombotic thrombocytopenic purpura: active monitoring and management during pregnancy results in positive pregnancy outcomes |
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Malaria: the early concentration of once-infected erythrocytes is a solid candidate marker to predict post-artesunate delayed hemolysis |
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Somatic NLRP3 mosaicism underlying Muckle-Wells syndrome |
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Ornithine transcarbamylase deficiency: clues for early diagnosis and timely treatment |
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Stem Cells |
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Amyotrophic lateral sclerosis: focal transplantation of human iPSC-derived glial-rich neural progenitors improves lifespan of mice |
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Gene Therapy |
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Spontaneous autoimmune peripheral polyneuropathy: vasoactive intestinal polypeptide expressing dendritic cells protects against the disease |
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Leber congenital amaurosis: CEP290 gene transfer rescues the cellular phenotype |
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Therapeutic Approaches |
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Rett syndrome: functional recovery and phenotype amelioration with recombinant human IGF1 and β2-adrenergic receptor agonist treatments in a mouse model |
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Duchenne muscular dystrophy: effective dystrophin restoration by a novel muscle-homing peptide-morpholino conjugate in mdx mice |
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Severe spinal muscular atrophy: human growth hormone increases survival motor neuron expression and survival in mouse model |
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Amyotrophic lateral sclerosis: treatment with an antibody directed against Nogo-A delays disease progression in mouse model |
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Huntington disease: Xpro1595, a dominant negative inhibitor of soluble TNF-α, suppresses inflammatory responses and improves the impaired motor function in model mice |
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Head and neck cancer: on-demand intracellular amplification of chemoradiation with cancer-specific plasmonic nanobubbles improves efficacy of chemoriadiation |
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Diagnostic Approaches |
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Arthrogryposis syndrome: diagnostic approach to etiology, classification, genetics, and general principles |
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‘Clinical Face Phenotype Space’, an algorithm extracting phenotypic information from photographs, is relevant for diagnosis in eight syndromes with dysmorphic features |
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Neuro-cardio-facio-cutaneous syndromes: combined MPS-Sanger sequencing based strategy as an effective diagnostic tool for heterogeneous diseases |
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Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform |
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Idiopathic inflammatory myopathy: combining MRI and muscle biopsy improves diagnostic accuracy |
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Whole-body muscle MRI to detect myopathies in non-extrapyramidal bent spine syndrome |
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Patient Management and Therapy |
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Congenital heart malformation: cardiovascular management in pregnancy |
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Goldenhar syndrome: early ultrasound screening should be performed in all infants born with the disorder because of a high rate of associated anomalies |
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Classic galactosemia: a re-evaluation of life-long severe galactose restriction for the nutrition management |
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Gastric cancer: review on angiogenesis inhibitors |
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Anaplastic oligodendroglioma and oligoastrocytoma: review on adjuvant treatment |
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Coenzyme Q10 deficiency syndrome: four articles on clinical presentation, biochemical diagnosis, genetics and therapy |
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Uveitis associated with juvenile idiopathic arthritis: review of the treatment |
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Anti-neutrophil cytoplasmic antibody-associated vasculitis: review of the treatment |
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Disorder of sex development: review on transition of care for adolescents |
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Aggressive pituitary adenoma: review on diagnosis and emerging treatments |
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Cataplexy: review on clinical aspects, pathophysiology and management strategy |
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Neurofibromatosis type 1: review on a multidisciplinary approach to care |
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Giant cell arteritis and polymyalgia rheumatica: a review |
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Non-infectious cryoglobulinemia vasculitis: review on clinical and therapeutic approaches |
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Kawasaki disease: review on pathophysiology, clinical manifestations and management |
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Respiratory bronchiolitis - interstitial lung disease: a review |
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Hamartomatous polyposis syndromes: a review |
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IgG4-related diseases: a review |
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Tracheobronchopathia osteochondroplastica: a review |
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Eosinophilic esophagitis: a review |
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2 new and 8 updated GeneReviews published |
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Orphan Drugs |
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Need for paediatric labelling of drugs to improve treatment in children |
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Recommendations to improve efficiency of clinical trials for rare diseases |
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A study of the literature sheds light on trends in rare disease and orphan drug research |
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Regulatory News |
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FDA approves Ruconest to treat patients with hereditary angioedema (HAE) |
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27 positive opinions recommending orphan designation at the July 2014 COMP meeting |
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Grants |
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The Sturge-Weber Foundation Research Grants |
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Myotonic Dystrophy Foundation (MDF) Fund-a-Fellow postdoctoral grant programme |
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Call for tender Chafea/2014/Health/05 concerning the development of a manual and toolbox for the assessment of European Reference Networks |
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DEBRA International research grants |
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NBIA Disorders Association Announces Research Grants for Pantothenate Kinase-Associated Neurodegeneration (PKAN) |
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FRT - Fondation René Touraine (FRT) Award |
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Courses & Educational Initiatives |
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EUPATI Training Course |
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International Summer School: Rare diseases and orphan drug registries |
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‘Explique-moi les essais cliniques’: The keys to understanding clinical trials to become an actor of one’s disease (in French) |
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Genodermatoses Network Training Session |
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III International EPIRARE workshop: Rare disease and orphan drug registries |
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Quality assessment of health care guidelines for rare diseases |
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Health care guidelines for rare diseases |
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What's on Where? |
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Third Symposium ATP1A3 in disease: Genotype/phenotype correlations, modelling and identification of potential targets for treatment |
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3rd Nordic Conference on Rare Diseases |
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25th European Dysmorphology Meeting |
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National Huntington's Conference |
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EFGCP Multi-Stakeholder Workshop & Discussion: How to Ensure Optimal Ethical Review within the New Clinical Trials Regulation? |
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15th International Conference on Human Genome Variation and Complex Genome Analysis (HGV2014) |
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International Clinical Conference Jérôme Lejeune: Intellectual disability and the importance of assessment |
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SIOPE – ENCCA Conference 2014: Joining Efforts for a Brighter Future for Children and Adolescents with Cancer |
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16th International Conference on Behçet’s Disease |
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2nd European Conference on Aniridia |
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4th Annual Brain Metastases Research and Emerging Therapy Conference |
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9th International Research Symposium on Marfan Syndrome and related disorders |
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3rd International Conference on Immune Tolerance 2014 |
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EFGCP / DIA / EMA Annual Conference 2014 on Better Medicines for Children: ‘Explore Ways to Enhance Collaboration Between Key Players’ |
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Single topic symposium in metabolic liver disease |
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ICORD 2014 Annual Meeting: Societal value of Prevention, Diagnosis and Treatment of Rare Diseases |
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The Translational Science of Rare Diseases: From Rare to Care II |
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9th ISNS European Neonatal Screening Regional Meeting |
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Dysmorphology and Radiology of Inborn Errors of Metabolism |
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International Scientific Symposium on Angelman Syndrome 2014 |
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64th Annual Meeting of the American Society of Human Genetics: ASHG 2014 |
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NORD’s Rare Diseases and Orphan Products Breakthrough Summit |
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14th International Congress on Neuronal Ceroid Lipofuscinoses (Batten Disease) |
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International VHL Medical Symposium |
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30th Annual Meeting of the Histiocyte Society |
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ESID Meeting 2014 |
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New frontiers in Neuroacanthocytosis and Neurodegeneration with Brain Iron Accumulation: From Benchside to Bedside |
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2nd International Rare Diseases Research Consortium (IRDiRC) Conference |
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4th Pan-European Conference on Haemoglobulinopathies and Rare Anaemias |
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Third International Symposium on Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) |
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Ataxia Telangiectasia Clinical Research Conference 2014 |
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Cilia 2014 |
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22nd René Touraine Foundation for Dermatology Scientific Meeting |
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Trisomy 21 Research Society (T21RS) International Conference |
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7th International Conference on Children’s Bone Health |
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2nd International Primary Immunodeficiencies Congress (IPIC) |
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13th International Congress of Human Genetics (ICHG) 2016 |
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Orphan Drugs Summit 2014 |
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The Orphan Drugs, Collaborations & Market Access Congress |
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Orphan Drugs and Rare Diseases |
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3rd annual World Biosimilar Congress |
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The World Orphan Drug Congress Europe 2014 |