Development of Improved Diagnostics for Genetic DiseaseDevelopment of Therapies for Selected Genetic Muscle DiseasesGenetic DiseaseGenetic DiseaseGenetic Neuromuscular DisordersGeneticsLabMuscular DystrophyNews & EventsRare Disease Genetics and Functional GenomicsResearch
Genetic Variants Linked to Severe Form of Muscular Dystrophy
By Alicia Bienkowski | Development of Improved Diagnostics for Genetic Disease, Development of Therapies for Selected Genetic Muscle Diseases, Genetic Disease, Genetic Disease, Genetic Neuromuscular Disorders, Genetics, Lab, Muscular Dystrophy, News & Events, Rare Disease Genetics and Functional Genomics, ResearchResearchers from Perth’s Harry Perkins Institute of Medical Research have led a study that uncovered changes in a gene associated with a rare and severe form of muscular dystrophy. The…
Development of Improved Diagnostics for Genetic DiseaseDevelopment of Therapies for Selected Genetic Muscle DiseasesGenetic DiseaseGenetic DiseaseGenetic Neuromuscular DisordersGeneticsLabMuscular DystrophyNews & EventsRare Disease Genetics and Functional GenomicsResearch
Gene Mutation Discovery Sheds Light on Rare Muscle Disorder
By Alicia Bienkowski | Development of Improved Diagnostics for Genetic Disease, Development of Therapies for Selected Genetic Muscle Diseases, Genetic Disease, Genetic Disease, Genetic Neuromuscular Disorders, Genetics, Lab, Muscular Dystrophy, News & Events, Rare Disease Genetics and Functional Genomics, ResearchA groundbreaking study led by Dr Mridul Johari and Associate Professor Gina Ravenscroft, has identified that a genetic mutation is responsible for a rare and debilitating form of congenital myopathy.…
Development of Improved Diagnostics for Genetic DiseaseDevelopment of Therapies for Selected Genetic Muscle DiseasesDisease AreaFundingGenesGenetic DiseaseGenetic DiseaseGenetic Neuromuscular DisordersGeneticsMedia ReleasesMusclesMuscular DystrophyNeurological DisordersNews & EventsRare Disease Genetics and Functional Genomics
WA scientists win Hearts and Minds
By Richard Schoonraad | Development of Improved Diagnostics for Genetic Disease, Development of Therapies for Selected Genetic Muscle Diseases, Disease Area, Funding, Genes, Genetic Disease, Genetic Disease, Genetic Neuromuscular Disorders, Genetics, Media Releases, Muscles, Muscular Dystrophy, Neurological Disorders, News & Events, Rare Disease Genetics and Functional GenomicsFirst West Australian team to attract unique listed investment company funds One of Australia's Top 30 Corporate Philanthropists, Hearts and Minds Investments Limited (ASX: HM1) has made its first donation…
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Muscular dystrophy discovery increases likelihood more families will be diagnosed with muscle weakening diseases
By Richard Schoonraad | Genetic Disease, Genetic Disease, Genetics, Genome Biology and Genetic Diseases, Muscular Dystrophy, Neurological Disorders, News & EventsDiscovery changes the way geneticists analyse debilitating muscle diseases When several people in an extended family suffer from similar muscle weakening symptoms, the cause is typically a genetic disease such…
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One in twenty five couples found to be at high risk of having a baby with a recessive genetic condition
By Alicia Bienkowski | DNA, Genes, Genetic Disease, Genetic Disease, Genetic Neuromuscular Disorders, Genetics, Lab, Media Releases, Molecular Medicine, Motor Neurone Disease, Muscular Dystrophy, News & Events, Rare Disease Genetics and Functional Genomics, ResearchWA’s first pre-pregnancy study finishing screening for more than 200 couples The first major pre-pregnancy screening study in WA found around 4% of couples were at risk of having a…
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Changing view of Muscular Dystrophy
By Marlin Communications | Disease Area, Lab, Molecular Medicine, Muscular Dystrophy, News & Events, Rare Disease Genetics and Functional Genomics, Research, Research AreaPerkins PhD student, Dr Macarena Cabrera-Serrano, from the Laboratory for Neurogenetic Diseases, was lead author on the paper, Expanding the phenotype of GMPPB mutations. Although Congenital Muscular Dystrophy has several…
