Professor Emma Whitelaw is a molecular biologist working at the La Trobe Institute of Molecular Sciences, Melbourne. After completing her undergraduate degree at the Australian National University, she obtained a D.Phil at the University of Oxford and remained working in London and Oxford for the next fifteen years. In 1991, she joined the University of Sydney and focused her research on transcription.

Her most notable research achievements are in the area of epigenetics. More recently she has extended her studies to include the interaction between the environment and the epigenome. In 2008 she was awarded an Australia Fellowship, the most prestigious fellowship available from the NHMRC, and in 2011 she became a Fellow of the Australian Academy of Science.

Emma has had a distinguished research career, with that include (but are not limited to):

• Demonstration of the heritability of epigenetic effects;
• The effects of inherited epigenetically inherited traits on the skull, especially with reference to fetal alcohol syndrome;
• The establishment of a mutagenesis screen in the mouse to identify novel genes involved in epigenetic processes; and
• Epigenetic differences in monozygotic twins discordant for disease.

Epigenetics is the study of changes in patterns of gene expression in the absence of changes in the DNA sequence. The notion that environmental influences on phenotype can be mediated by detectable/ measurable epigenetic marks continues to be of interest to the biologist, the clinician and the broader community. One reason for the interest is that these molecular marks might be valuable as biomarkers of future disease, i.e. preclinical diagnosis. Another reason is that there are small molecules available that can be used as drugs to change epigenetic state, providing a possible treatment option. However, the value of these approaches is dependent on the long term stability of these marks, which is in most cases unknown.

Nevertheless, in general, epigenetic reprogramming of the genome, which is a complex process of switching “on” and “off” different subsets of genes, is required for development and differentiation to proceed normally.

Indeed, studies in mice and humans have shown that deficiencies in the proteins that establish epigenetic marks results in a wide range of abnormal phenotypes. I will discuss some of these examples, focussing on craniofacial defects.