Exploring the Human Genome to Understand Complex Brain Diseases

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: Michael Janitz, Senior Lecturer, School of Biotechnology and Biomolecular Sciences

Michael Jantiz
Dr Michael Janitz is a senior lecturer at the School of Biotechnology and Biomolecular Sciences. He completed his PhD at the Free University of Berlin, Germany and performed postdoctoral research at the Department of Vertebrate Genomics at the Max Planck Institute for Molecular Genetics in Berlin.
Michael’s team uses molecular genomics techniques, such as RNA sequencing, to identify gene sets that are specifically expressed in functionally distinct regions of the human brain. Michael’s research is focused on so-called dark matter of the human genome that encodes RNA transcripts, called non-coding RNAs, which do not express proteins but have a regulatory and structural functions in cellular physiology.

Michael’s team pioneered research towards understanding of the function and expression patterns of non-coding RNAs in the brain, which is the richest source of these species in the human body. Michael and his team believe that these specific transcripts contribute to the underlying molecular complexity and functional uniqueness of the human brain, i.e. abstract thinking. 

Mentor: Lachlan Gray, MSc student

Lachlan Gray

Lachlan is a Masters by Research student in Dr Michael Janitz research group at the School of Biotechnology and Biomolecular Science at UNSW Sydney. Lachlan’s work focuses on analysis of circular RNAs, a novel class of non-protein coding RNA molecules and investigation of their potential role in human disease. Lachlan is also interested in how bioinformatics can explore complex biological processes in health and disease.