Science at the Shine Dome 2010
Early-career researcher awards
Thursday, 6 May 2010
2010 Ruth Stephens Gani Medal
Dr Stuart Macgregor
Queensland Institute of Medical Research
Stuart Macgregor is a genetic epidemiologist who develops new analytical methods and application tools and applies them to a wide range of diseases, ranging from schizophrenia to cancer to glaucoma. He completed his PhD in statistical genetics from the University of Edinburgh in 2003. He was lecturer in biostatistics at Cardiff University from 2003-2005. In 2005 he moved to a research position at the Queensland Institute of Medical Research in Brisbane. Currently he is senior research fellow in the Queensland Statistical Genetics Laboratory at QIMR.
Statistical methods for understanding the genetic basis of disease
Better understanding of the genetic component of common diseases (eg, cancers, psychiatric disorders) is likely to lead to improved public health. Identification of disease susceptibility loci is currently one of the primary means for increasing our understanding of the biochemical and developmental pathways involved.
Genetic association studies are one approach for identifying genes influencing disease risk. Such studies examine the relationship between the genotype at a specific genetic marker and a phenotype of interest. In recent years it has become possible to evaluate hundreds of thousands of markers simultaneously using microarrays, leading to the adoption of genome-wide association studies (GWAS). GWAS have proved extremely useful in identifying new disease susceptibility loci. GWAS are expensive to perform (often millions of dollars) hindering their widespread use. DNA pooling is a technique for performing genetic association studies at substantially reduced cost. However, because in pooling a set of individuals are grouped together for genotyping (instead of being genotyped individually), advanced statistical and computational methods are required to recover the relevant information and to efficiently test for association between phenotype and genotype. In my talk I will describe examples of GWAS (both pooled and non-pooled) applied to a range of diseases.
