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 Genetic Diseases, 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 Genetic Diseases, 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…
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.…
Perkins researchers find gene for deadliest breast cancer
By Alicia Bienkowski | Breast Cancer, Breast Cancer, Cancer, Cancer Epigenetics, Genes, Lab, Media Releases, News & EventsA new cancer-causing gene and protein which creates highly aggressive hard to treat breast cancers has been discovered by cancer researchers at the Harry Perkins Institute. The discovery has been…
Waking up silent genes
By Alicia Bienkowski | Cancer Epigenetics, Genes, Genetic Disease, Lab, News & Events, ResearchTesting proven cancer research on a devastating childhood condition For parents whose child has been diagnosed with Prader-Willi Syndrome (PWS), their concerns usually start when their baby fails to thrive.…
A step closer to precision diagnoses in Autism
By Alicia Bienkowski | Genes, News & Events, Systems Biology and GenomicsNew tool developed in Perth makes it simpler to search for the genes causing autism spectrum disorder (ASD) Researchers at the Harry Perkins Institute of Medical Research have narrowed down…
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, News & Events, Rare Disease Genetics and Functional Genomics, 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…
Researchers uncover new sarcoma gene
By Alicia Bienkowski | Cancer, Cell Signalling, Genes, News & Events, SarcomaA team of WA researchers has uncovered new genes that could play an important role in the development of sarcoma, a group of rare bone, muscle and connective tissue cancers.…