Dr Sandy Richardson

Dr Sandra (Sandy) Richardson is a Mater Research Career Track Fellow and member of the Genome Plasticity and Disease research group. She completed her PhD at the University of Michigan in the Department of Human Genetics, and her Bachelor of Science at Michigan State University in Microbiology and Molecular Genetics. She joined Mater Research in 2013 and is based at the Translational Research Institute.

Sandy is interested in how LINE-1 elements, segments of DNA known as retrotransposons or “jumping genes”, impact human fertility and embryonic development. Sandy’s research seeks to address the underappreciated contribution of jumping genes in fertility by revealing the “invisible impact” of LINE-1 activity on human reproductive outcomes. Her goals are to elucidate harmful LINE-1 insertions as a contributor to unexplained infertility and pregnancy loss, and to identify environmental influences and underlying genetic factors that modulate LINE-1 activity during the most critical and vulnerable periods in human development.

LINE-1 are selfish DNA elements: their evolutionary drive is to make new copies of themselves, known as LINE-1 insertions, that are passed down to the next generation. Sandy’s work has demonstrated that heritable LINE-1 insertions can occur during the very early development of a fetus, as well as in cells that will eventually generate sperm or eggs. Unfortunately, these insertions can interfere with the function of important genes, and LINE-1 insertions have resulted in over 100 documented cases of human genetic disease.

Sandy believes that the true impact of LINE-1 insertions on human health and fertility has been greatly underappreciated, because the most damaging insertions are likely to result in cell dysfunction or death. Harmful LINE-1 insertions occurring during the early stages of pregnancy may therefore result in pregnancy loss. Similarly, damaging insertions in sperm or egg cells may lead to infertility, suggesting a hypothetical link between LINE-1 insertions and the well-documented but incompletely understood decline in female fertility with age.

Sandy is passionate about mentoring and training and currently co-supervises two PhD students and a research assistant in the Genome Plasticity and Disease group. She is dedicated to science communication and frequently presents at national and international meetings in the areas of mobile DNA biology, mammalian genomics, and molecular biology and evolution. Sandy has authored fifteen scientific publications, including primary research articles, comprehensive reviews, and book chapters.

In recognition of Sandy’s research accomplishments, she was awarded a competitive Mater Research ECR Seeding Grant in 2014, and the Advance Queensland Women’s Academic Fund Maternity Funding in 2017. She contributed substantially to successful National Health and Medical Research Council project grant applications in 2016 and 2017 funding research in the Genome Plasticity.