Associate Professor Katie Ayers is the Deputy Theme Director for Genomic Medicine and Co-Group Leader of the Reproductive Development Group at the Murdoch Children’s Research Institute (MCRI) in Melbourne. A/Prof Ayers completed her undergraduate studies in Genetics at the University of Otago, New Zealand, before obtaining her PhD from the Université de Nice Sophia Antipolis in France, supported by an EU/Marie Curie Scholarship. Research in A/Prof Ayers’ group focuses on understanding the genetic and molecular mechanisms underlying reproductive organ development and Variations/Differences of Sex Development (DSD). Specifically, she uses advanced genetic and functional genomics technologies to improve diagnostic rates and patient health and wellbeing. This includes pioneering the use of stem cell models of reproductive organs to study DSD. A/Prof Ayers has received several accolades, including the Alan Wilton Award from the Genetics Society of AustralAsia (2014) and the KY Cha Award in Stem Cell Technologies from the American Society of Reproductive Medicine (2025). She serves on the editorial boards of Sex Development and Biology of Reproduction, is Treasurer of the Australasian Society for Stem Cell Research, and sits on several international steering committees, including for the Vertebrate Sex Determination and SOX Transcription Factor meetings.
Research
A/Prof Ayers’ research focuses on understanding how human reproductive organs develop and why this can vary in some people including those born with a Difference of Sex Development (DSD). Indeed, more than one baby in every 100 is born with a DSD. This means their sex chromosomes, hormones, or reproductive organs do not develop in a typical way. These differences can affect physical development, fertility, hormone health, and long-term wellbeing. Some people with DSD may face a higher risk of developing gonadal cancer, creating difficult decisions about monitoring, treatment, and surgery for children and families.
For people born with a DSD, finding the genetic cause can help doctors choose the best care, support families, and improve health outcomes. A/Prof Ayers and her team have already more than tripled the number of people who receive a genetic diagnosis by developing specialised genetic tests and discovering new genetic causes of DSD. However, for many DSDs, fewer than half of individuals currently receive a clear genetic answer. This is partly because scientists do not yet fully understand all the genes and DNA regions needed for reproductive organ development, and because there are limited laboratory tools to test new discoveries.
Supported by this Rebecca L. Cooper Foundation Fellowship, A/Prof Ayers and her group will work to identify new genetic causes of DSD and better understand gonadal cancer risk. They will investigate DNA changes in patients that lie outside of the genes. They will create cutting-edge laboratory models of developing human reproductive organs using stem cells and use these to test genetic findings and study how gonadal cancers arise. This research aims to give more individuals and families clear answers, improve cancer risk prediction, and support more personalised and informed care for people with DSD.