Walter and Eliza Hall Institute researcher awarded 2011 Gani Medal for Human Genetics

Major advances in our understanding of human evolution have seen Walter and Eliza Hall Institute researcher Dr Alicia Oshlack awarded the 2011 Gani Medal for Human Genetics by the Australian Academy of Science.

The Gani Medal recognises distinguished research in human genetics by early career researchers and honours the contribution to genetics of the late Ruth Stephens Gani.

Dr Oshlack, a senior research officer in the institute's Bioinformatics division, has made new strides in understanding the genetic basis of human evolution by natural selection. She has compared gene expression levels between humans and apes to show that transcription factors, which control when genes are switched on or off, evolved rapidly in humans.

"I feel very honoured and excited to be awarded the Ruth Gani Medal," said Dr Oshlack. "It's an exciting time in genetics - the past three years have brought a revolution in the way we do genetics and exponentially increased the possibilities for what we can learn about the genome.

"High-throughput genomic technologies are underpinning the new wave of biology research, giving us amazing new insights into how cells develop and function, and the changes that lead to disease," Dr Oshlack said. "My research is now more focussed on improving our understanding of gene expression and regulation - essentially what leads to particular genes being switched on, or expressed, and the factors that control or 'regulate' the switching on or off of genes."

She is currently working on methods that will help understand how stem cells develop and differentiate into different cell types - such as skin, lung or blood cells - and the changes that occur in diseased cells, such as cancer.

"One aspect of our work is studying epigenetics - the factors that control when and how genes are expressed," Dr Oshlack said. "The DNA in all the cells in your body is exactly the same, so how do all these different cell types, with very different functions, develop from the same blueprint?"

Dr Oshlack said her methodologies for investigating gene expression and control could be applied to many aspects of human biology and medical genetics. She is pioneering analysis of new DNA sequencing technology for studying gene expression and has also been involved in projects to uncover the genetic causes of human disease and changes in gene expression and control in different cancers.

"The biggest challenge is integrating the information on how genes are expressed and controlled to make new discoveries about the normal function of cells and the changes that lead to disease," Dr Oshlack said.

Institute director Professor Doug Hilton said the methodologies Dr Oshlack has developed have the potential to reveal unprecedented detail about gene expression and control.

"In her young career, Alicia has made a major contribution in the field of gene expression in human genetics and evolution," Professor Hilton said. "Her prolific research in methodology and designing and interpreting genomics data will lead to a greater understanding of gene control in human disease."

Dr Oshlack is the second Walter and Eliza Hall Institute researcher to be awarded the Gani Medal, with Dr Marnie Blewitt receiving the prize in 2008.