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Editorial |
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Commission Decision sets up a new expert group for rare diseases to follow in EUCERD's footsteps |
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Spotlight on... |
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Cost Action representing European network for congenital Imprinting calls for partners to join them |
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Interview |
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National & International Policy Developments |
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The pursuit of legislation for rare disease patients in China |
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Other International News |
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Guidance Documents and Recommendations |
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Guideline on medicines for the treatment of amyotrophic lateral sclerosis released for a six-month public consultation |
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Bioinformatics, Registries and Data Management |
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Inside TREAT-NMD Duchenne muscular dystrophy registries: past sucesses and future direction |
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Screening and Testing |
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Two articles discuss the importance and state of Non-Invasive Prenatal Testing in US |
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Ethical, Legal & Social Issues |
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Overcoming barriers for nutritional management for individuals with inborn errors of metabolism |
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Are the recommendations by ACMG for incidental findings premature? |
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Rare Family days- an innovative workshop that reaches out to families with rare disease patients |
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New Syndromes |
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Identification of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability caused by mutations in TRAPPC11 |
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Description of a new immunodeficiency syndrome associated with mutations in VPS45 involving impaired neutrophil function and myelofibrosis in infants |
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Novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay |
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New Genes |
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Familial hypocalciuric hypercalcemia type 2 and autosomal dominant hypocalcemia: mutations affecting G-protein subunit α11 (GNA11) identified |
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Idiopathic central precocious puberty is caused by heterozygous mutations in MKRN3 |
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Three studies show that SHORT syndrome is due to heterozygous PIK3R1 mutations |
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Severe obesity associated with loss-of-function mutations in SIM1 |
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Increased risk of multiple system atrophy associated with functionally impaired variants of COQ2 |
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Autosomal recessive congenital ichthyosis: first evidence of the essential role of CERS3 in human sphingolipid metabolism for the maintenance of epidermal lipid homeostasis |
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Acute promyelocytic leukemia: all-trans retinoic acid plus arsenic trioxide may be superior to all-trans retinoic acid plus chemotherapy for patients with low-to-intermediate risk |
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Langerhans cell histiocytosis: chemotherapy prolongation improves outcomes |
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Research in Action |
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Clinical Research |
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Metachromatic leukodystrophy: benefits of lentiviral hematopoietic stem cell gene therapy in three presymptomatic patients |
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Wiskott-Aldrich syndrome: benefits of lentiviral hematopoietic stem cell gene therapy in three patients |
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Gene Therapy |
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Spinocerebellar ataxia type 3: lentiviral-mediated overexpression of beclin 1, an autophagy-related protein, mitigates motor and neuropathological deficits in genetic mouse models |
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Acute intermittent porphyria: helper-dependent adenoviral liver gene therapy protects against induced attacks and corrects protein folding stress in a murine model |
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Therapeutic Approaches |
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Duchenne muscular dystrophy: treatment with antioxidants retards the onset of cardiac dysfunction and death in mdx/mTRKO mice |
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Dystrophic epidermolysis bullosa: topical application of recombinant type VII collagen incorporates into the dermal-epidermal junction and promotes wound closure |
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Diagnostic Approaches |
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Sarcoidosis: the use of endosonography (esophageal or endobronchial ultrasonography) compared with conventional bronchoscopy results in greater diagnostic yield |
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Two Clinical Utility Gene Cards published in the European Journal of Human Genetic |
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Patient Management and Therapy |
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Rhabdoid tumors: review on what we have learned so far and future directions |
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Fragile X-associated tremor/ataxia syndrome: advances in clinical and molecular understanding |
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Neural tube closure defect: recent advances, unsolved questions, and controversies |
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Primary amyloidosis: update for treating physicians |
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Hermansky-Pudlak syndrome: health care throughout life |
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Orphan Drugs |
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Regulatory News |
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19 positive opinions recommending orphan designation at the July 2013 COMP meeting |
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Political and Scientific News |
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Report of the International Workshop on exon skipping treatment for Duchenne Muscular Dystrophy held in Netherlands
full text at http://www.orpha.net/actor/EuropaNews/2013/130817.html
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