OrphaNews Europe : 17 August 2013

OrphaNews Europe : 17 August 2013 (major reading of full article)

Commission Decision sets up a new expert group for rare diseases to follow in EUCERD's footsteps

Spotlight on...
Cost Action representing European network for congenital Imprinting calls for partners to join them

National & International Policy Developments
The pursuit of legislation for rare disease patients in China
Other International News
Guidance Documents and Recommendations
Guideline on medicines for the treatment of amyotrophic lateral sclerosis released for a six-month public consultation
Bioinformatics, Registries and Data Management
Inside TREAT-NMD Duchenne muscular dystrophy registries: past sucesses and future direction
Screening and Testing
Two articles discuss the importance and state of Non-Invasive Prenatal Testing in US

Ethical, Legal & Social Issues
Overcoming barriers for nutritional management for individuals with inborn errors of metabolism
Are the recommendations by ACMG for incidental findings premature?
Rare Family days- an innovative workshop that reaches out to families with rare disease patients

New Syndromes
Identification of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability caused by mutations in TRAPPC11
Description of a new immunodeficiency syndrome associated with mutations in VPS45 involving impaired neutrophil function and myelofibrosis in infants
Novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay

New Genes
Familial hypocalciuric hypercalcemia type 2 and autosomal dominant hypocalcemia: mutations affecting G-protein subunit α11 (GNA11) identified
Idiopathic central precocious puberty is caused by heterozygous mutations in MKRN3
Three studies show that SHORT syndrome is due to heterozygous PIK3R1 mutations
Severe obesity associated with loss-of-function mutations in SIM1
Increased risk of multiple system atrophy associated with functionally impaired variants of COQ2
Autosomal recessive congenital ichthyosis: first evidence of the essential role of CERS3 in human sphingolipid metabolism for the maintenance of epidermal lipid homeostasis
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
Langerhans cell histiocytosis: chemotherapy prolongation improves outcomes

Research in Action
Clinical Research
Metachromatic leukodystrophy: benefits of lentiviral hematopoietic stem cell gene therapy in three presymptomatic patients
Wiskott-Aldrich syndrome: benefits of lentiviral hematopoietic stem cell gene therapy in three patients
Gene Therapy
Spinocerebellar ataxia type 3: lentiviral-mediated overexpression of beclin 1, an autophagy-related protein, mitigates motor and neuropathological deficits in genetic mouse models
Acute intermittent porphyria: helper-dependent adenoviral liver gene therapy protects against induced attacks and corrects protein folding stress in a murine model
Therapeutic Approaches
Duchenne muscular dystrophy: treatment with antioxidants retards the onset of cardiac dysfunction and death in mdx/mTRKO mice
Dystrophic epidermolysis bullosa: topical application of recombinant type VII collagen incorporates into the dermal-epidermal junction and promotes wound closure
Diagnostic Approaches
Sarcoidosis: the use of endosonography (esophageal or endobronchial ultrasonography) compared with conventional bronchoscopy results in greater diagnostic yield
Two Clinical Utility Gene Cards published in the European Journal of Human Genetic

Patient Management and Therapy
Rhabdoid tumors: review on what we have learned so far and future directions
Fragile X-associated tremor/ataxia syndrome: advances in clinical and molecular understanding
Neural tube closure defect: recent advances, unsolved questions, and controversies
Primary amyloidosis: update for treating physicians
Hermansky-Pudlak syndrome: health care throughout life

Orphan Drugs
Regulatory News
19 positive opinions recommending orphan designation at the July 2013 COMP meeting
Political and Scientific News

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