Human Genome Research Program

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The Western Sydney Genetics Program and its research arm, the Human Genome Research Program, are devoted to understanding the basis of a number of genetic disorders from a biological perspective and translating these research findings into clinical practice.

The Program consists of a number of research groups, each with its own group leader, which conduct research in diverse areas: the Genetic Metabolic Disorders Research Unit, the NSW Biochemical Genetics Service, the Department of Clinical Genetics, the NSW Newborn Screening Program, the Eye and Developmental Genetics Research Group, and the Genetic Skeletal Disorders and Lysosomal Research Group.

Activities range from basic laboratory research through to applied or translational research and clinical studies. Staff are in the unique position of often working directly with families affected by sometimes devastating conditions and, through this clinical interface, are able to offer better diagnosis, prognosis and novel treatment options as a result of their genetic research.

Research achievements

The Genetic Metabolic Disorders Research Unit, which incorporates the NSW Centre for Rett Syndrome Research, studies a number of genetic disorders that in particular affect brain development and function. The Unit has recently discovered the gene responsible for Arts syndrome, allowing the implementation of a new therapy. It has also discovered a gene causing a mitochondrial respiratory chain disorder, a genetic modifier in Rett syndrome, and has demonstrated that environmental enrichment is of benefit in a mouse model of Rett syndrome.

The Genetic Skeletal Disorders and Lysosomal Research Group researches rare inherited disorders which result in a large number of patients requiring rehabilitation through the Hospital's busy clinics. The Group has recently prepared an updated clinical and genetic classification of the Osteogenesis Imperfecta syndromes and has pioneered the bisphosphonate treatment of these disorders in Australia. This work will benefit all children with osteoporosis as it has resulted in the development of normal ranges for bone density in children, seen the trial and evaluation of multiple forms of bisphosphonates, and enabled the findings to be applied to a wider range of skeletal disorders of childhood.

The NSW Newborn Screening Program screens all newborns in NSW and the ACT for the common treatable inborn errors of metabolism. Its major research focus this year has been DNA mutational analysis of dried blood spot samples, with a particular focus on Fragile-X Syndrome.

The Eye and Developmental Genetics Research Group works to identify and characterise novel disease genes in eye and other developmental disorders. Major recent achievements involve characterisation of the Wnt signalling pathway in eye development, as well as advances in the understanding of corneal stem cell function and the identification of a novel familial mutation in the eye development gene SOX2.