Disease AreaLabMolecular MedicineMuscular DystrophyNews & EventsRare Disease Genetics and Functional GenomicsResearchResearch Area
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…
Cancer and Cell BiologyDisease AreaGenesLabMolecular MedicineMusclesNews & EventsRare Disease Genetics and Functional GenomicsResearchResearch AreaSystems Biology and Genomics
Perth team solve forty-year genetic mystery
By Marlin Communications | 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 GenomicsResearch 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…
Disease AreaGenesLabMolecular MedicineNews & EventsRare Disease Genetics and Functional GenomicsResearchResearch Area
Perth scientists part of international hunt for disease genes
By Marlin Communications | Disease Area, Genes, Lab, Molecular Medicine, News & Events, Rare Disease Genetics and Functional Genomics, Research, Research AreaHaving 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…
Disease AreaGenetic DiseaseLabNews & EventsRare Disease Genetics and Functional GenomicsResearch
Better diagnosis thanks to advanced new technology
By Marlin Communications | Disease Area, Genetic Disease, Lab, News & Events, Rare Disease Genetics and Functional Genomics, ResearchWorking 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…
LabMolecular MedicineNews & EventsRare Disease Genetics and Functional GenomicsResearchResearch Area
Sudden infant cardiac death explained by gene mutation
By Marlin Communications | Lab, Molecular Medicine, News & Events, Rare Disease Genetics and Functional Genomics, Research, Research AreaLast year the Perkins Neurogenetic Diseases Laboratory received DNA from a family in Scotland whose four-month-old baby had tragically suffered a cardiac arrest and died. With the family’s permission, their doctor sent…
Disease AreaGenesLabMolecular MedicineMusclesNews & EventsRare Disease Genetics and Functional GenomicsResearchResearch Area
Perkins researchers decipher world-first muscle disorder cases
By Marlin Communications | Disease Area, Genes, Lab, Molecular Medicine, Muscles, News & Events, Rare Disease Genetics and Functional Genomics, Research, Research AreaDuring their investigation the multi-national team of researchers studied a muscle protein that is strongly influenced by calcium. The protein, known as tropomyosin-3 (TPM3), is vital for skeletal muscle development…
Disease AreaGenesLabMolecular MedicineMusclesNews & EventsRare Disease Genetics and Functional GenomicsResearchResearch Area
Sharpening the focus on muscle diseases
By Marlin Communications | Disease Area, Genes, Lab, Molecular Medicine, Muscles, News & Events, Rare Disease Genetics and Functional Genomics, Research, Research AreaDr Gina Ravenscroft, who is lead author of the review published by the prestigious journal Brain, works in the Neurogenetic Diseases Laboratory at the Harry Perkins Institute of Medical Research; one of the world's…
