Transcriptomics and Bioinformatics

Our vision is to data-mine our genetics information to unravel the developmental gene regulatory networks that are required to form healthy babies, and that cause congenital malformations if altered.

The Transcriptomics & Bioinformatics group are a multidisciplinary team of computational and molecular biologists who specialise in mining our genomic information, in order to uncover the underlying genetic causes of congenital diseases, such as congenital heart disease (CHD).

The group is particularly focused on decrypting the role of the non-coding genome in development and disease, via developing novel software, data mining pipelines and conducting bioinformatics research in collaboration with other laboratories at MCRI and beyond.

Challenges facing children and adolescents

The successful formation of healthy babies relies on a network of genes that must be activated at exact times and in specific territories during embryonic development. Failure to activate this network at the right time and right place will result in congenital malformations.

Therefore, it is imperative that we:

  1. Identify the genetic components of this gene regulatory network, and
  2. Understand where and when these genes are recruited, in order to fully understand how healthy babies develop and how genetic malformations may arise.

Our current research

To address this challenge, the research team applies systems biology approaches (the study of biological components, be it molecules, cells, organisms or entire species), to reconstruct the developmental gene regulatory networks that are required to form healthy babies, and that cause congenital malformations if altered.

The group develops novel software for -omics data mining (genomics end epigenomics, single cell and spatial transcriptomics, networks) and 3D data visualisation platforms, making complex high-throughput data intuitive and interpretable by expert researchers, clinicians and lay audiences alike.

Most importantly, the group collaborates with life scientists all around the world to exploit the power of Bioinformatics to enable breakthrough discoveries in our understanding of embryonic development and congenital disease.

Future impact on children and adolescents

Our bioinformatics research delivers enabling bioinformatics resources to collaborating laboratories, who employ these resources to drive better insights into genes and their contributions to health and diseases in babies.

Our data mining research also helps derive gene panels with proven predictive power which are essential for producing reliable diagnostics tests for parents and babies.