Human Genome Research Program


Group Heads

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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 studies a number of genetic disorders that affect brain development and function. This year we have discovered the genetic basis of MLASA (Myopathy, Lactic Acidosis and Sideroblastic Anaemia) Syndrome. In collaboration with the SIDS and Sleep Apnoea Research Group, we have also identified genes linked to obstructive sleep apnoea in children and further explored the biology of Rett Syndrome.

The Eye and Developmental Genetics Research Group investigates the critical factors in eye development and maintenance of function, and how can these be harnessed to develop better therapies for blinding diseases. This year we have discovered a gene, Twist2, that is critical for normal function of the cornea. Dysfunction of this gene may be a contributing factor to keratoconus, a relatively common condition where there is thinning and distortion of the cornea, making vision very difficult. In collaboration with a group in Boston, we discovered a new gene, TUBB3, required for normal function of the nerves that control the eye muscles. From a family referred with anophthlamia (absent eyes), microphthalmia (small eyes) and coloboma (keyhole abnormality in the iris), we have identified a novel mutation in SOX2.

The NSW Biochemical Genetics Service researches the development of new assay techniques and how to incorporate them into routine use. This work is often carried out in conjunction with the NSW Newborn Screening Department. This year we have developed and validated two new dried blood spot assays for inborn errors of the metabolism. This will allow second tier testing of newborn screening samples without the need to recall the patient for further sampling. In the first half of 2010, we have been able to exclude Maple Syrup Urine Disease in 205 neonates without recall or further sampling, reducing costs and parental anxiety. We have also begun development of a new Tandem Mass Spectrometry technique for urine metabolic testing, which we hope will expand the numbers of conditions covered. As part of our gene therapy research, we have performed biochemical analysis to monitor efficacy of treatment for OTC deficient mice undergoing gene therapy.

The Department of Clinical Genetics at the Hospital conducts predominantly clinically based research. We are currently studying lysosomal storage disorders, Fabry Disease, Pompe Disease and Huntington Disease.