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Orphanews Europe 29 October 2013


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


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


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


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