Genetic disease hunt resolved after 20-year search for a gene for facial deformity condition
By Alicia Bienkowski | Epigenetics and Genomics Laboratory, Genes, Genetic Disease, Genetic Disease, Genetic Neuromuscular Disorders, Genetics, Genome Biology and Genetics, Media Releases, ResearchPublished in Nature Communications. International hunt by geneticists in Perth, Australia and Yale University, U.S.A. find cause of significant facial deformity disease Families with hemifacial microsomia, a condition where one…
WA leading the way with Mackenzie’s Mission
By Alicia Bienkowski | Disease Area, Epigenetics and Genomics Laboratory, Genes, Genetic Disease, Genetic Disease, Genetics, Genome Biology and Genetics, Media Releases, Neurological Disorders, News & Events, Other Genetic DisordersWA is leading the way in a national $20 million genetic screening study testing selected couples for genetic mutations that cause severe diseases. The study known as Mackenzie’s Mission, co-led…
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 Genetics, Media Releases, Neurogenetic Diseases, Neurological Disorders, News & Events, Other Genetic Disorders, 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 Genetics, Media Releases, Neurogenetic Diseases, Neurological Disorders, News & Events, Other Genetic Disorders, 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.…
Genetic screening study begins national roll-out
By Alicia Bienkowski | Funding, Genetic Disease, Genetic Disease, Genetic Neuromuscular Disorders, Genetics, Media Releases, Neurogenetic Diseases, News & Events, 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…
In recent years, our understanding of the human body has increased exponentially due to innovative medical research discoveries. But as proven, evidence-based information is gained from studies, a variety of…
WA pearling family seeds ground-breaking genetic research
By Alicia Bienkowski | Genetic Disease, Lab, News & EventsNew fund to help families avoid risk of passing on devastating diseases Fast Fact: Rare genetic diseases cause 35% of deaths in the first year of life One of WA’s…
One in twenty five couples found to be at high risk of having a baby with a recessive genetic condition
By Alicia Bienkowski | DNA, Genes, Genetic Disease, Genetic Disease, Genetic Neuromuscular Disorders, Genetics, Lab, Media Releases, Molecular Medicine, Motor Neurone Disease, Muscular Dystrophy, Neurogenetic Diseases, News & Events, ResearchWA’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…