Genomics Activities in SA
From the identification of the chromosomal changes associated with Fragile X Syndrome by Professor Grant Sutherland to the discovery of the genes involved in Lysosomal Storage Disorders by Professor John Hopwood, South Australia has a long and proud history of genetics research.
This success continues today supported by world-class diagnostic and research genomics laboratories, and high-throughput screening facilities.
Blood cancers, or haematological malignancies, are a group of cancers that affect the blood and lymph system. Advances in our understanding of haematological malignancies have greatly improved the outlook for patients, however, these cancers remain a leading cause of childhood morbidity and mortality, and are commonly lethal disorders in adults. Researchers based at the SA Health and Medical Research Institute (SAHMRI), the Centre for Cancer Biology (CCB) and SA Pathology are using genomics techniques to understand the biology of haematological malignancies. Unified in their approach through the South Australian Comprehensive Cancer Consortium (SACCC), these groups are identifying novel gene changes in cancer, uncovering new biomarkers, and investigating patterns of inheritance. This research is already leading to earlier detection of cancer, more accurate prognoses and the use of rationally targeted therapies, ultimately providing better treatment outcomes for patients.
Neurodevelopmental disorders are those that affect brain function during childhood, such as intellectual disabilities, epilepsies, autism and cerebral palsy. In many cases it is thought that there is a genetic cause. The SA Neurogenetics group, led by Professor Jozef Gecz out of the University of Adelaide, has built on SA’s expertise in this area, contributing to the discovery of over 150 genes involved in these disorders. Identifying the genes underlying these disorders helps with early detection and is an important step towards developing treatments for patients. It has also uncovered an unanticipated complexity in the genetic regulation of brain development. By linking the large-scale gene discovery platform pioneered by the Adelaide neurogenetics group with researchers from across the globe, the group is working towards a better understanding of how changes in the genome are linked with brain development.
Blindness is a serious and debilitating disease. It also occurs frequently in our population. At the Flinders Centre for Ophthalmology, Eye and Vision Research a group of clinicians and researchers have developed one of the world’s largest registries on corneal transplantation and are using this experience, together with modern genetic techniques, to identify disease genes and risk factors contributing to corneal diseases such as glaucoma and keratoconus.
Lysosomal Storage Disorders
Lysosomal storage disorders are a group of approximately 50 different rare conditions caused by dysfunction of the cellular waste disposal system, the lysosome. These disorders are a paradigm of the potential benefits of genetic testing as both enzyme replacement and gene therapies have been pioneered by researchers in this field, primarily due to the work of Professor John Hopwood out of the Women’s and Children’s Hospital. Due to the state’s expertise in this area, South Australia is the Australasian testing hub for these disorders and provides genetic testing for affected families, along with prognostic studies and monitoring of therapies. This work is supported by the on-going research of the Lysosomal Diseases Research Unit (LDRU) based at the SA Health and Medical Research Institute (SAHMRI).