Bioinformatics is the use of large datasets and computer algorithms to answer complex biological questions. With the recent explosion in freely available RNA sequencing data and computer programs, researchers are able to investigate the role of genetics in health and disease. In our research, we focus on diseases of the brain with the aim of contributing to the development of diagnostic and therapeutic tools to treat brain diseases.

What Students will do

Students will perform a bioinformatic analysis on RNA sequencing data from healthy and diseased brain tissues to quantify transcriptomic expression. Students will follow an established pipeline to assess and improve data quality, map sequencing reads to the human genome and then quantify gene and transcript abundances. With this information students will be able to determine the small changes between healthy and diseased individuals.

In this study we will provide sequencing data from Alzheimer’s disease, Parkinson’s disease and Multiple System Atrophy datasets. Like all research, this project will have no 'correct' answers; it is up to the student to ask interesting questions of the data and draw useful conclusions, using the peer-reviewed literature for guidance.

Prerequisite Study

  • Biology

Areas of Student Interest

  • Exploration of human genome to understand complex diseases
  • Investigating neurodegenerative diseases, such as Alzheimer’s disease
  • How gene expression impacts human disease
  • Application of computer science in genomic research


Lead Academic: Sara Ballouz, Senior Research Officer, Garvan-Weizmann Centre for Cellular Genomics, UNSW Medicine

Sara obtained her PhD from the University of New South Wales and the Victor Chang Cardiac Research Institute in 2013, working with Drs Merridee Wouters and Bruno Gaeta. Sara then moved to Cold Spring Harbor Laboratory for postdoctoral training with Dr Jesse Gillis. In 2020, she started her own group at the Garvan-Weizmann Centre for Cellular Genomics at the Garvan Institute of Medical Research.

Sara’s central scientific interest has been to understand the genetic architecture of disease. With data from the genome, transcriptome, epigenome and proteome increasing exponentially, robust tools and practices need to be established to analyse this deluge, in particular if to be applied to personalized medicine.


Lachlan Gray

Mentor: Lachlan Gray, PhD student

Lachlan is a first year PhD candidate at the Garvan-Weizmann Centre for Cellular Genomics at the Garvan Institute of Medical Research. His research is focussed on the role of the X chromosome in autoimmunity and is particularly interested in understanding why females are disproportionately affected by these diseases. Lachlan is enthusiastic about applying cutting edge technologies to diagnose and treat complex diseases in the age of personalised medicine.