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Muscular dystrophy / Rare diseases / Molecular biology / Medical specialties / Biotechnology / Limb-girdle muscular dystrophy / Duchenne muscular dystrophy / Exome sequencing / Medical genetics / Medicine / Health / Biology


Australasian Neuromuscular Network (ANN) and the Centre for Research Excellence in Neuromuscular Disorders (CRE-NMD) WORKSHOP REPORT
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Document Date: 2014-08-04 00:54:07


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File Size: 4,68 MB

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City

Australian / Charlotte / Concord / Brisbane / Melbourne / Adelaide / /

Company

Saporta A. S. / St. Vincent’s Melbourne Neuromuscular Diagnostics Laboratory / National Referral Laboratory / Allied Health / Nursing Steering Group / Genomic Health / HSN / Muscle Bank / NSW Newborn Screening Laboratory / Steering Group / The Victorian Neuromuscular Laboratory / /

Continent

Europe / /

Country

Australia / United Kingdom / Israel / Germany / New Zealand / United States / /

Currency

USD / pence / /

Event

FDA Phase / Business Partnership / /

Facility

Sydney Children’s Hospital / Children’s Hospital / NSW Newborn Screening Laboratory / Starship Hospital / Muscle Bank The Victorian Neuromuscular Laboratory / Broad Institute / National Referral Laboratory / Children's Hospital / NM clinic Involvement / Royal Children’s Hospital / Carolinas Medical Center / clinic Support / London CMT clinic / NC Children's Hospital / /

IndustryTerm

carrier testing/cascade testing / online version / health services / clinical trials network / informatics infrastructure / Web browser / clinical diagnostic tools / published diagnostic algorithm / guidelines database site / collaborative network / open source software / country different health services / clinical trial protocol / bank / diagnostic tools / diagnostic network / web-based diagnostic tools / established clinical trial infrastructure / neuromuscular network / carrier testing / interdisciplinary network / pharmaceutical / line site / diagnostic systems / internet-based database / Diagnostic algorithms / area health services / generation sequencing technologies / treatment of people with neuromuscular disorders / greater computing power / care for neuromuscular disorders / search protocol / splice-site / omics technologies / diagnostic tool / /

MedicalCondition

nemaline myopathy / rare diseases / One unpublished One potential candidate disease / NM disease / pulmonary function Victoria / respective disease / nationwide disease / health care National Disability Insurance Scheme Rare disease / important Charcot-Marie Tooth disease A / neuromuscular disorders Priority Actions A / myotonic dystrophy / Charcot-Marie-Tooth disease / novel disease / rare disorders / diseases / cardiomyopathy disease / disorders / Neuromuscular Disorders / muscular dystrophy / undiagnosed disorders / Genetic myopathies / neuromuscular diseases / individual disease / Auckland HSP72 co-inducer Improves disease / Peripheral neuropathy / lysosomal etc disorders / particular genetic disease / potential disease / infantile-onset facioscapulohumeral muscular dystrophy / Congenital Myopathies / spinal muscular atrophy / disease / rare disease / peak body representing neuromuscular disorders / Duchenne muscular dystrophy / Charcot Marie Tooth disease / Related Disorders / muscular atrophy* Myotonic dystrophy / neurogenetic and cardiogenetic disorders / Charcot-Marie Tooth disease / neurogenetic disease / genetic disorders / /

MedicalTreatment

physiotherapy / /

Organization

PI / Sydney Children’s Hospital / Health Service New Zealand / Children's Hospital of Pittsburgh Dysferlinopathy Natural history / Centre for Research Excellence / Global Alliance for Genomics and Health / Medicare / TREAT-NMD / South Australia Children’s Hospital / Royal Children’s Hospital in Melbourne / European Commission / European Union / Genetic Health Service New Zealand / Neuromuscular Network / National Health and Medical Research Council / National Institute of Health / Neurogenetics Unit / Allied Health and Nursing / Broad Institute / Victorian Clinical Genetics Service / Medical Research Council / Carolinas Medical Center / Global Alliance / Starship Hospital in Auckland / Global Alliance for Genomics and Health More / NMD Advisory Committee / Allied Health and Nursing Alliance / NC Children's Hospital of Pittsburgh Natural history / Department of Human Services / Centre of Excellence / National Health Board / Melbourne Genomics Health Alliance / TREAT-NMD and the FP7 Framework / /

Person

Mark Davis / Ann Neurol / Victoria Like / Michael Shy / Che Fornusek / Caleb Wegener / Nigel Laing / Gene Discovery / Amy Sman / Jan Kirschner / Scott Denton / Rachel Kennedy / /

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Position

Executive / Contents Executive / investigator / neurology department Adult services neurologist / Nurse Coordinator / nurse / local evaluator / nurse / research coordinator / /

Product

00EXAMPLE 2 Congenital / vitamin D / Ataluren / HSP72 / Becker / /

ProvinceOrState

Nebraska / Capital Territory / Washington / South Australia / Northern Territory / Western Australia / Queensland / Tasmania / New South Wales / /

PublishedMedium

The European / /

Region

South Australia / South Wales / Western Australia / /

Technology

omics technologies / search protocol / 17 Diagnostic algorithms / HPO / sequencing technologies / published diagnostic algorithm / genotype / research technologies / randomised low-dose vs placebo Similar protocol / Genomics / bioinformatics / clinical trial protocol / pharmacodynamics / /

URL

http /

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