Editorial
China celebrates the founding of the Chinese Rare Disease Research Consortium
Spotlight on...
Pharmacological chaperones to cure genetic diseases – Q&A with G. Andreotti and M.V. Cubellis
Interview
EU Policy News
Impact of disease prevalence upon health technology assessment
Rare disease stakeholders gather to discuss potential impact of data protection legislation on health and medical research
National & International Policy Developments
Other European news
EURORDIS Photo Contest 2013 now open
An alliance between Manchester Academic Health Science Centre and the Peking University Health Sciences Centre to promote research in genomic medicine
Other International News
Workshop on translational research opportunities for primary mitochondrial diseases
Review examining the outlook of next-generation sequencing in rare disease research
Guidance Documents and Recommendations
Marfan syndrome: health supervision for children from the American Academy of Pediatrics
Juvenile idiopathic arthritis: 2013 update of the 2011 American College of Rheumatology recommendations for the treatment
Regional consensus for the management of beta-thalassemia major in the Arabian Gulf area
Mucopolysaccharidosis type 1: results of an international consensus procedure for the treatment of hip dysplasia after hematopoietic stem cell transplantation
Ethical, Legal & Social Issues
ACMG recommendations on incidental findings earns criticism, another article recommends a decision tree approach to disclosing incidental findings
Rare and Orphan Diseases Challenges: Clinical Development and Clinical Practice
EU Project Follow-up
RARECARE project description of estimation of rare cancer prevalence in Europe using completeness index method
Orphanet News
New Texts
Orphanet Report Series: List of Rare Diseases and Synonyms
New Syndromes
Autosomal-recessive syndrome with severe hypotonia, speech impairment, and intellectual disability caused by mutations in NALCN
New glycosylation disorder characterized by intellectual disability and autonomic dysfunction due to mutations in GMPPA
Human autosomal recessive condition characterized by severe cognitive impairment, microcephaly, skeletal anomalies and facial dysmorphic features caused by TTI2 missense mutation
New Genes
Extension of phenotype associated with dominant gain-of-function STAT1 mutations beyond chronic mucocutaneous candidiasis
Primary ciliary dyskinesia caused by C21orf59 and CCDC65 defects as well as by SPAG1 mutations
Cole disease results from three heterozygous mutations in ENPP1 in three unrelated families
Fuchs endothelial corneal dystrophy and alteration of protein-protein interaction with TCF4 are due to dominant mutations in AGBL1
Both recessive and dominant mutations in RARB cause anophthalmia and/or microphthalmia and diaphragmatic hernia, which is coherent with Matthew-Wood syndrome
Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia
MCTP2 as a novel genetic cause of coarctation of the aorta and related cardiac malformations
Two congenital disorders of glycosylation caused by homozygous mutations in STT3A and STT3B
Autosomal recessive OX40 deficiency underlying classic Kaposi sarcoma of childhood
Hearing impairment in humans is associated with an alteration in ELMOD3
Retinitis pigmentosa: whole genome sequencing reveals pathogenic DNA structural changes and NEK2 as a new disease gene
Autosomal recessive centronuclear myopathy is associated with recessive TTN gene mutations
Ataxia telangiectasia presenting as dopa-responsive cervical dystonia caused by biallelic ATM mutations
17q12 duplications are a rare cause of familial febrile seizures and generalized epilepsy with febrile seizures plus
Autosomal recessive early infantile epileptic encephalopathy due to homozygous missense variant in the gene TNK2
The east Texas bleeding disorder is caused by the coagulation factor VA2440G via TFPIα
Glioblastoma: the integrated landscape of driver genomic alterations
The facioscapulohumeral dystrophy (FSHD) type 2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD type 1
Severe recessive osteogenesis imperfecta caused by a homozygous deletion of CREB3L1
Research in Action
Clinical Research
Mesothelioma: tremelimumab seems to have encouraging clinical activity and acceptable safety and tolerability although the effect size was small in a phase 2 trial
Pancreatic carcinoma: chemotherapy with fluorouracil or gemcitabine is the optimum adjuvant treatment and reduces mortality after surgery by about a third
Mucopolysaccharidosis type 4: review on advanced therapies
Autoimmune pancreatitis type 1: survival is similar in patients treated with immunomodulators plus steroids versus steroids alone and rituximab is effective for remission
Pulmonary arterial hypertension: effect of pulmonary artery denervation on functional capacity and hemodynamics in patients not responding optimally to medical therapy
Juvenile idiopathic arthritis: systematic review on efficacy of biological agents
Severe epidermolysis bullosa: blood and marrow transplantation can attenuate the mucocutaneous manifestations and improve quality of life
Beta-thalassemia major: patients’ quality of life transplanted more than twenty years ago is similar to those of the general population
Therapeutic prospects in amyotrophic lateral sclerosis, spinal muscular atrophy and dystrophy, intellectual disabilities and central nervous system viral infections
Primary immunodeficiency: current progress on gene therapy
Systemic sclerosis: submaximal heart and pulmonary evaluation as a novel noninvasive test to identify pulmonary hypertension
Faciobrachial dystonic seizures are controlled more effectively with immunotherapy than with anti-epileptic drugs
Hereditary hyperekplexia: genotype-phenotype correlations in apnoeas, learning difficulties and speech delay
Therapeutic Approaches
Topical enzyme-replacement therapy restores transglutaminase 1 activity and corrects architecture of transglutaminase-1-deficient skin grafts in a skin-humanized mouse model
Glioblastoma: CSF-1R inhibition alters macrophage polarization and blocks the progression in a mouse proneural glioblastoma multiforme model
Transmissible spongiform encephalopathy: oral treatment targeting the unfolded protein response prevents neurodegeneration and clinical disease in prion-infected mice
Diagnostic Approaches
Patient Management and Therapy
Spinal muscular atrophy with respiratory distress: 190th European NeuroMuscular Center (NMC) international workshop
Central diabetes insipidus: desmopressin can provide effective and safe therapy for patients with neurohypophyseal or gestational diabetes
SAPHO syndrome: review on therapeutic strategies
Scleromyxedema: review on pharmacotherapy
Papillary carcinoma of the corpus uteri: review on treatments
Familial amyloid polyneuropathy: tafamidis evaluation for the treatment
Bilateral striopallidodentate calcinosis: literature review of current evidence
Systemic sclerosis: an American college of rheumatology/European league against rheumatism collaborative 2013 classification criteria
Alpha-1-antitrypsin deficiency: augmentation therapy evaluation
Chronic myeloid leukemia: omacetaxine mepesuccinate for the disease management
Seventeen new Clinical Utility Gene Cards and four Clinical Utility Gene Cards updates published in the European Journal of Human Genetics
The European Journal of Human Genetics has published four Clinical Utility Gene Cards updates for:
Orphan Drugs
Regulatory News
8 positive opinions recommending orphan designation at the September 2013 COMP meeting
Political and Scientific News
StaR Child Health: improving global standards for child health research
Grants
SMA Europe announces its 6th international Call for SMA Research Projects
The French Foundation for rare diseases and the World Academy of Sciences announce their first joint call for rare diseases research: APPLY SOON!
Call for research proposal in Lowe Syndrome
Courses & Educational Initiatives
1st Asia Pacific Inborn Errors of Metabolism course
European Cytogeneticists Association Courses
Workshop: Implementation of clinical genetic databases
What's on Where?
The 8th ICORD Meeting
First International Primary Immunodeficiencies Congress (IPIC)
EUROPLAN National Conferences Lithuania
EUROPLAN National Conferences The Netherlands
5th European Symposium on Rare Anaemias
EUROPLAN National Conferences Italy
EUROPLAN National Conferences Luxembourg
The International GSD Conference 2013
EUROPLAN National Conferences Serbia
EUROPLAN National Conferences France
EUROPLAN National Conferences Spain
EUROPLAN National Conferences Ireland
EUROPLAN National Conferences Belgium
14th International Congress on Neuronal Ceroid Lipofuscinoses (Batten Disease)
19th Congress of the European Association of Hospital Pharmacists
The 9th International Congress on Autoimmunity
2014 Lymphangioleiomyomatosis International Research Conference
7th European Conference on Rare Diseases & Orphan Products (ECRD 2014)
Explaining the Price of Orphan Drugs
World Orphan Drug Congress 2013
2nd Orphan Drugs Research & Commercialization Conference