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Sanchez-Luque Graphical Abstract
Richardson et al., Genome Research, 2017
Gerdes et al., Nature Communications 2022
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Faulkner Lab

The impact of mobile DNA on mammalian biology



Genome Plasticity and Disease Group

We study the impact of retrotransposons (mobile DNA) and retroviruses on mammalian biology and human health. Retrotransposons compose nearly two-thirds of our genome and are a notable source of germline mutations and disease. In somatic cells, and particularly the early embryo and committed neuronal lineage, retrotransposon “jumping” can cause genetic mosaicism, with largely unknown consequences. Similarly, retrotransposons and retroviruses can contribute to cancer and, potentially, diseases of the immune system.


Retrotransposons are repressed by the epigenome, a dynamic layer of regulation based on modification and packaging of DNA. Nonetheless, their influence upon gene expression and function is relatively underexplored. Recent advances in long-read DNA and RNA sequencing has in this regard transformed our capacity to study retrotransposons and retroviral integration and, alongside more traditional methods in the field, are the focus of the lab.


While our research strives to improve fundamental knowledge, it has major implications for the diagnosis and treatment of common diseases, including cancer (lung, liver, blood and ovary) and neurodegeneration (Parkinson’s disease), as well as the safety of stem cell-based therapies


We acknowledge the National Health and Medical Research Council (NHMRC), Australian Research Council (ARC), Cancer Australia and the Mater Foundation for their ongoing generous support of our work.