Latest Research News

Professor Gina Ravenscroft, Rare Disease Genetics and Functional Genomics Group Leader from the Harry Perkins of Medical Research and Senior Research Fellow at The University of Western Australia and PhD student, Lein Dofash from the Perkins and UWA Medical School recently published a paper identifying a new genetic cause of rigid spine syndrome, a rare muscle disorder that causes spinal stiffness, scoliosis, and breathing difficulties in children. 

Chromosomal abnormalities are one of the more commonly recognised causes of recurrent miscarriage. Professor Gina Ravenscroft — Group Leader, Rare Disease Genetics & Functional Genomics Group at the Harry Perkins Institute of Medical Research and Senior Research Fellow at the University of Western Australia — is leading a research project to use a new technology, Optical Genome Mapping (OGM) to create a detailed map of the chromosomes.

Associate professor Gina Ravenscroft, group leader of Rare Disease Genetics & Functional Genomics at the Harry Perkins Institute of Medical Research interviews with ABC Perth Mornings Nadia Mitsopoulos.

Dr Mridul Johari from the Perkins Rare Disease Genetics and Functional Genomics Group has been awarded a prestigious Raine Priming Grant from the Raine Medical Research Foundation.

Researchers at Perth’s Harry Perkins Institute of Medical Research and PathWest Laboratory Medicine WA are celebrating the long-awaited nationally recognised accreditation of a world-leading diagnostic technology that will provide faster, more accurate genomic tests for patients with genetic neuromuscular conditions.