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.…
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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,…
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Perkins Represented in Premiers Science Awards
By Richard Schoonraad | Antibiotic diagnostics, awards, BioDiscovery, Community, Epigenetics and Genomics Laboratory, Genetic Disease, Genetic Disease, Lungs, Media Releases, News & Events, ResearchThree celebrated scientists from WA’s Harry Perkins Institute of Medical Research, have been named as finalists in the 2024 Premier’s Science Awards. Associate Professor Gina Ravenscroft, Dr Kieran Mulroney and…
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“Google map” of ovarian tumours reveals cancer cells control who gets into their neighbourhood
By Richard Schoonraad | Cancer, Cancer, Cancer and Cell Biology, Genetic Disease, Genetic Disease, Genome Biology and Genetic Diseases, Lab, News & Events, Ovarian Cancer, Research, TumoursPerth researchers find some ovarian cancer cells appear to tell immune system to stay away. “Spatial transcriptomics reveals discrete tumour microenvironments and autocrine loops within ovarian cancer subclones” published in…
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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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$5m funding awarded to researchers for inherited disease hunt
By Richard Schoonraad | Funding, Genes, Genetic Disease, Genetic Disease, Genetics, Media Releases, News & Events, Other Genetic Disorders, ResearchNational approach to finding the causes of several debilitating diseases Medical Research Future Fund awards $4,877,532 over 5 years to ‘The missing heritability of human disease: discovery to implementation’. Blood…
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New gene discovery published in New England Journal of Medicine
By Richard Schoonraad | Epigenetics and Genomics Laboratory, Genetic Disease, Genetic Disease, Genetics, News & Events, ResearchDisease-causing genetic mutation finding to impact thousands of patients world-wide The genetic cause of a brain disease that leads to vertigo, speech difficulties and loss of coordination, and which can…
