to the website of the Scott Lab. The focus of our laboratory is on transcription and transcriptional regulation in development and disease. The laboratory works on human diseases often caused by mutations in transcriptional regulators or that result in a transcriptional deregulation such as familial predispositions to leukemia, autoimmunity, neurodegenerative diseases, neurodevelopment and Down syndrome. This requires work on human samples, mice, and in vitro systems with a diverse range of techniques and numerous collaborators. The broader concept is that we are defining genetic, genomic or regulatory networks that in the long run will help us diagnose and treat the diseases.

Most disease states can be considered to be caused by destabilization of genetic networks that can be detected by transcriptome analyses such as microarrays and Serial Analysis of Gene Expression (SAGE). Altered biological activity (such as copy number or mutations) of key genes, or weak points, in genetic networks result in phenotypes. Alterations of copy number, or mutations of key genes, such as transcription factors (TFs), are prime candidates for destabilization of genetic networks. We have studied Down syndrome (DS) vs. normal transcriptomes and are attempting to dissect the contribution of various human chromosome 21 TFs to Down syndrome phenotypes (e.g. mental retardation and predisposition to develop leukemia) and define genetic networks controlled by key TFs, by identifying putative TF target genes. Additionally, we are searching for mutations, mainly in TF genes, in rare families with predispositions to develop leukemia. Another transcription factor gene, AIRE is responsible for the rare autoimmune disease APECED. We have generated animals deficient in this gene with a view to understanding not only Aire, but also autoimmune disease generically. Similarly, genetic studies have implicated certain proteases in non-syndromal deafness pedigrees, the hypothesis that these may be involved in sporadic deafness is being investigated.

The lab is based at the Walter and Eliza Hall Institute of Medical Research (WEHI). The WEHI is associated with The University of Melbourne and The Royal Melbourne Hospital.

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Last modified on the 6th December 2005.
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