Hope Tanudistastro has been enrolled in a Doctor of Philosophy (PhD) at the University of Sydney and also a Doctor of Medicine (MD) which she paused for two years in order to pursue her PhD studies full time and has now completed this degree. Her thesis topic is Profiling the landscape of short tandem repeats (STRs) and structural genetic variation in human immunity.

Hope used the Tempe Mann scholarship to support her accommodation and living costs while in the US for four months to conduct translational structural genetic variation research at the Broad Institute of MIT and Harvard with Prof Michael Talkowski who is a world leader in developing structural genetic variation analysis workflows and in applying these pipelines to large cohorts.

Hope has 10 academic prizes and her review article on short tandem repeats was published in Nature Reviews Genetics, July 2024, the highest-rated review journal in this field. She has mentored several younger women scientists and has advocated for understanding the need for training of women scientists. She has also been involved in working with Indigenous groups on a project called Treaty Trees.

Structural genetic variation encompasses repetitive regions, duplications, deletions, and inversions in the genome, which are considered among the most complex types of genetic variation to analyse. Structural variation underlies more than 100 conditions that can affect people of all ages, including congenital birth defects, autism spectrum disorder, cardiomyopathy, and cancer. Because structural variations are challenging to interpret, many Australian genetic testing laboratories do not systematically analyse them genome-wide and thus, this class of variation represents a crucial gap in the diagnostic yield of current clinical genetic testing.

Hope used her award to spend four months conducting translational structural genetic variation research at the Broad Institute of MIT and Harvard with Prof Michael Talkowski who is a world leader in not only developing structural genetic variation analysis workflows but also in applying these pipelines to large cohorts. The objectives of her research project were:

To apply GATK-SV, a structural variation genetic analysis tool, to identify and interpret structural genetic variation in a pilot cohort of 100 Australian individuals.
To design a structural genetic variation analysis strategy to apply to over 15,000 Australian individuals upon her return to Australia.

The Scholarship is available to women enrolled as a research master or a research doctoral degree (2nd or 3rd year) student at The University of Sydney, OR who have a first degree or masters from The University of Sydney and are enrolled for a research doctorate at another university (listed on the Australian Universities’ list) with campuses within NSW or Canberra. Short-listed candidates will be required to attend an interview in Sydney. The Scholarship is awarded to a woman to undertake a short period of advanced research or coursework in any field at a university or equivalent organisation.