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Genome Biology and Genetic Diseases Program

FundingGenetic DiseaseGenetic DiseaseGenetic Neuromuscular DisordersGeneticsMedia ReleasesNews & EventsRare Disease Genetics and Functional GenomicsResearchStatements

Genetic screening study begins national roll-out

By | Funding, Genetic Disease, Genetic Disease, Genetic Neuromuscular Disorders, Genetics, Media Releases, News & Events, Rare Disease Genetics and Functional Genomics, Research, Statements

Full-scale recruitment for a $20 million reproductive genetic carrier screening study has begun in four states and territories ahead of national expansion next year. The pilot phase of the Mackenzie’s…

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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 | 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, Research

WA’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…

Disease AreaLabMolecular MedicineMuscular DystrophyNews & EventsRare Disease Genetics and Functional GenomicsResearchResearch Area

Changing view of Muscular Dystrophy

By | Disease Area, Lab, Molecular Medicine, Muscular Dystrophy, News & Events, Rare Disease Genetics and Functional Genomics, Research, Research Area

Perkins 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…

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Perth team solve forty-year genetic mystery

By | Cancer and Cell Biology, Disease Area, Genes, Lab, Molecular Medicine, Muscles, News & Events, Rare Disease Genetics and Functional Genomics, Research, Research Area, Systems Biology and Genomics

Research involving teams in Perth, Spain and Sweden identified the genetic mutation for the late-onset muscle weakening disease. Professor Nigel Laing AO, Head of the Neurogenetic Disease Laboratory at the…

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Perth scientists part of international hunt for disease genes

By | Disease Area, Genes, Lab, Molecular Medicine, News & Events, Rare Disease Genetics and Functional Genomics, Research, Research Area

Having conducted genetic sequencing on Australian and NZ samples at the Harry Perkins Institute of Medical Research, it’s now time to take her samples to a team in London to…

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Stem cell reprogramming mystery clarified by new findings

By | Cells, Disease Area, Epigenetics and Genomics Laboratory, Lab, Molecular Medicine, News & Events, Research, Research Area

In a study, published in Cell Stem Cell, researchers from the University of Western Australia, the Harry Perkins Institute of Medical Research, and Monash University describe key drivers of the process…

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Better diagnosis thanks to advanced new technology

By | Disease Area, Genetic Disease, Lab, News & Events, Rare Disease Genetics and Functional Genomics, Research

Working with international research groups, including the Broad Institute in Boston, the teams used a new technology called RNA-sequencing that interprets the ‘messages’ from genes, rather than observing the genes…