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.…
GenesGenetic DiseaseGenetic DiseaseGenetic Neuromuscular DisordersGeneticsNews & EventsResearch
Perkins researchers discover muscle disease gene
By Richard Schoonraad | Genes, Genetic Disease, Genetic Disease, Genetic Neuromuscular Disorders, Genetics, News & Events, ResearchResearchers at the Harry Perkins Institute of Medical Research and The University of Western Australia (UWA) have discovered the genetic cause of a rare muscle disease that causes muscle weakness,…
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…
Genetic DiseaseGenetic DiseaseGenetic Neuromuscular DisordersGeneticsGenome Biology and Genetic DiseasesMedia ReleasesNews & EventsResearch
Gene found for life threatening muscle disease affecting teenage athletes
By Alicia Bienkowski | Genetic Disease, Genetic Disease, Genetic Neuromuscular Disorders, Genetics, Genome Biology and Genetic Diseases, Media Releases, News & Events, ResearchWA geneticist receives national award: Growing up, Mitch Thompson used to suffer leg pains, usually after physical activity but he and his family put them down to growing pains. “The day…
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Hunt for missing genetics given million-dollar boost
By Alicia Bienkowski | awards, Epigenetics and Genomics Laboratory, Funding, Genes, Genetic Disease, Genetic Disease, Genetic Neuromuscular Disorders, Genetics, Genome Biology and Genetic Diseases, Media Releases, News & EventsFamilies from around the world with debilitating inherited diseases will be the beneficiaries of a $1,284,836.30 grant by the Australian federal government to a leading Perth geneticist. Dr Gina Ravenscroft,…
Epigenetics and Genomics LaboratoryGenesGenetic DiseaseGenetic DiseaseGenetic Neuromuscular DisordersGeneticsGenome Biology and Genetic DiseasesMedia ReleasesResearch
Genetic disease hunt resolved after 20-year search for a gene for facial deformity condition
By Alicia Bienkowski | Epigenetics and Genomics Laboratory, Genes, Genetic Disease, Genetic Disease, Genetic Neuromuscular Disorders, Genetics, Genome Biology and Genetic Diseases, Media Releases, ResearchPublished in Nature Communications. International hunt by geneticists in Perth, Australia and Yale University, U.S.A. find cause of significant facial deformity disease Families with hemifacial microsomia, a condition where one…
FundingGenetic DiseaseGenetic DiseaseGenetic Neuromuscular DisordersGeneticsGenome Biology and Genetic DiseasesMedia ReleasesNeurological DisordersNews & EventsOther Genetic DisordersRare Disease Genetics and Functional GenomicsResearch
UWA & the Perkins awarded $3 million each for groundbreaking medical research
By Alicia Bienkowski | Funding, Genetic Disease, Genetic Disease, Genetic Neuromuscular Disorders, Genetics, Genome Biology and Genetic Diseases, Media Releases, Neurological Disorders, News & Events, Other Genetic Disorders, Rare Disease Genetics and Functional Genomics, ResearchA medical trial to improve diagnosis in cancers with low survival rates and a project to investigate the genetic causes of neurological disorders in older patients are two research projects…
