Developmental Molecular Genetics Group

The Developmental Molecular Genetics Research Group investigates the dynamic interplay between mutagenic “jumping genes” and the human genome, with a focus on the presently active retrotransposon Long Interspersed Element 1 (LINE-1 or L1). To be evolutionarily successful, L1 must insert new copies of itself into the genomes of cells that will pass their DNA to the next generation, including germ cells (sperm, eggs and their precursors), and the cells of very early embryos during pregnancy. The lab’s research centres on the perpetual conflict between “selfish” L1 activity and the maintenance of genome stability in these critical developmental niches, and interrogates L1 mutagenesis as a potential contributor to human genetic disease and reproductive dysfunction.

The Research Group's focuses include:

• illuminating the consequences of L1 activity in developing embryos and aging oocytes on pregnancy loss and infertility
• characterising the contribution of embryonic L1 activity to genetic mosaicism and disease, and
• elucidating the regulation of L1 mutagenesis during the developmental genetic bottleneck of primordial germ cell specification.  

To address these objectives, the Research Group combines single-cell genomics and long-read sequencing with innovative mouse models and robust cultured cell assays and works in collaboration with Mater Researchers, clinicians and field-leading investigators throughout Australia, the United Kindgom and the United States of America.