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…
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.…
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…
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…
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…
WA philanthropist’s generosity leads to multi-million-dollar national grant
By Alicia Bienkowski | Development of Improved Diagnostics for Genetic Disease, Development of Therapies for Selected Genetic Muscle Diseases, Epigenetics and Genomics Laboratory, Funding, Genes, 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, ResearchDonations to a team of Perth geneticists from a Perth philanthropist have served as a catalyst for nearly $3million to be granted by the Federal Government’s Medical Research Future Fund.…
WA leading in $20 million pre-pregnancy genetic carrier screening research
By Alicia Bienkowski | Community, Genetic Disease, Genetic Neuromuscular Disorders, Genetics, Lab, News & Events, Rare Disease Genetics and Functional Genomics, ResearchWA is leading the way in a national $20 million pre-pregnancy screening study testing volunteer couples for genetic mutations that cause devastating diseases. The program known as Mackenzie’s Mission, co-led…
Genetic screening study begins national roll-out
By Alicia Bienkowski | Funding, Genetic Disease, Genetic Disease, Genetic Neuromuscular Disorders, Genetics, Media Releases, News & Events, Rare Disease Genetics and Functional Genomics, Research, StatementsFull-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…