Dr Elena Tucker, geneticist, Murdoch Childrens Research Institute, Melbourne
Dr Elena Tucker has brought peace of mind to families affected by rare energy disorders. She’s found genes responsible for some of these diseases.
Now, with the support of her 2014 L’Oréal For Women in Science Fellowship, she will look at hundreds of individual genomes to determine the causes of sex-determination disorders.
For the thousands of families affected by these rare disorders Elena’s work provides an understanding of the causes and opens a path to management and to potential treatments one day. And the techniques she’s developing underpin the broader development of personalised medicine.
For her PhD, Elena used high-throughput DNA sequencing to investigate the genetics of mitochondrial disease. Mitochondria are the membranous structures in the cell where food is converted into the energy that powers our bodies. Anything that disables them, such as the mutation of a gene, robs the body of the energy it needs to function. This can lead to symptoms such as seizures, muscle weakness, developmental delays, liver dysfunction, heart failure or blindness.
Elena discovered four genes, and helped in finding an additional four, within which mutations have a direct link to such conditions. This has accounted for a significant proportion of new genetic diagnoses of mitochondrial disease.
