Hidden Genes: Bioinformatics, CRISPR and lncRNAs in Cancer
Long noncoding RNAs (lncRNAs) are a vast and largely unexplored class of genes that regulate gene expression and cancer biology. My research focuses on understanding how lncRNAs contribute to women’s cancers, particularly breast and ovarian cancer, and on developing technologies to systematically dicover them and uncover their functions. Most cancer-associated mutations occur outside protein-coding genes, within the noncoding genome. Our work has helped identify lncRNAs such as CUPID1/2, BRRIAR, and KILR as important cancer drivers, with BRRIAR now being advanced towards a potential therapy for resistant breast cancer.
To study lncRNAs at scale, our group pioneered the use of CRISPR-Cas13, an RNA-targeting CRISPR technology, for high-throughput functional screening. Combining CRISPR, single-cell technologies, and bioinformatics, we aim to uncover clinically actionable noncoding drivers and new therapeutic opportunities for women’s cancers.
Bio
I was born in Brazil where I fell in love with science, graduated in Biophysics and started a PhD in Bioinformatics a decade ago. Through my scientific life I have been in Germany, Brazil and, finally, reached Australia where I am now a senior research officer at QIMR-B. At the Functional Genomics Lab, my research focuses on leveraging computational biology to advance our understanding of the functional genomics of human malignancies, with a particular emphasis on breast and ovarian cancers. I am especially interested in the role of long noncoding RNAs (lncRNAs) as key regulators of tumorigenesis, chemoresistance, and immune modulation. By identifying lncRNAs with biomarker and therapeutic potential, my work aims to close the gap between fundamental discoveries and clinically relevant applications. To address specific research questions, I mainly integrate bulk and single-cell transcriptomics and epigenomics, CRISPR-based functional screens, protein structure modelling, molecular docking and dynamics and biological sequence analyses. Recently, my group has started to implement gene-editing technologies to introduce point mutations into key lncRNAs which led to the goal of developing the first CRISPR-based prime-editing screen for lncRNA functional studies.
