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New technology revealing genetics of recurrent pregnancy loss
By Richard Schoonraad | Community, Disease Area, Genes, Genetic Disease, Genome Biology and Genetic Diseases, Lab, News & Events, Rare Disease Genetics and Functional Genomics, Research AreaEvery day in Australia, 282 women experience a miscarriage, according to the The Pink Elephants Support Network. Chromosomal abnormalities are one of the more commonly recognised causes of recurrent miscarriage.…
Disease AreaEpigenetics and Genomics LaboratoryGenetic DiseaseGenetic Neuromuscular DisordersGeneticsMedia ReleasesMusclesMuscular DystrophyNews & EventsResearchResearch Area
Perth gains NATA-accreditation for rare disease diagnostic tool
By Richard Schoonraad | Disease Area, Epigenetics and Genomics Laboratory, Genetic Disease, Genetic Neuromuscular Disorders, Genetics, Media Releases, Muscles, Muscular Dystrophy, News & Events, Research, Research AreaResearchers at Perth’s Harry Perkins Institute of Medical Research and PathWest Laboratory Medicine WA are celebrating the long-awaited nationally recognised accreditation of a world-leading diagnostic technology that will provide faster,…
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,…
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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…
Epigenetics and Genomics LaboratoryGenetic DiseaseMedia ReleasesMusclesNews & EventsRare Disease Genetics and Functional GenomicsResearch
Support needed for doctors offering couples genetic testing
By Richard Schoonraad | Epigenetics and Genomics Laboratory, Genetic Disease, Media Releases, Muscles, News & Events, Rare Disease Genetics and Functional Genomics, ResearchAs the number of genetic abnormalities that can be identified in pre and post pregnancy tests reaches the thousands, a national project has been launched to assist doctors as they…
