Molecular machines stop cancer’s clock
The Neurogenetic Diseases Group is world-renowned for investigating the genetic causes of neurogenetic diseases. The Group’s research has four themes: disease gene discovery, development of improved diagnostics, development of treatments and reproductive carrier screening.
Disease gene discovery
Discovering new disease genes is a major part of the Group’s work. In total, the Group has identified more than 30 disease genes. These gene discoveries mean families around the world now know the cause of their disease.
Development of improved diagnostics
The Perkins Neurogenetic Diseases Group has long been closely associated with the diagnostic Neurogenetic Unit in PathWest, in the Western Australian Department of health. Together they have developed and validated multiple novel diagnostic tools: targeted panels of known disease genes to analyse hundreds of disease genes simultaneously in patient DNA; demonstrating that analysis of RNA, the transcribed messages from the disease genes, can provide diagnosis for many patients for whom DNA analysis does not give a diagnosis; developing a new bioinformatics tool that can find and identify disease-causing short repeat segments in DNA, that cannot normally be identified from next generation sequencing.
Development of treatments
Development of clinically applicable therapies is another major goal of the Group. We are researching possible treatments mostly for diseases where we have identified the genes, such as the skeletal muscle actin (ACTA1) diseases. We demonstrated in preclinical models that heart actin is a candidate to for treating the skeletal muscle actin diseases. We are investigating ways of manipulating expression of heart actin that could be used as therapies in human patients.
Reproductive carrier screening
Recessive diseases arise in children where both parents are carriers of the same recessive condition. Couples who know they are carriers can make informed decisions about their reproductive options. However, most carrier couples do not know that they are carriers with a one in four chance of having an affected child. Reproductive carrier screening has been implemented for many populations, so that couples can find out whether they have a high chance of having an affected child. The Group has begun a pilot study of reproductive carrier screening in Western Australia and is one of three main Groups in Mackenzie’s Mission, the Federal Government’s reproductive carrier screening initiative, a $20m, three-year, Medical Research Future Fund project to test methods of implementing reproductive carrier screening Australia-wide.