Three Murdoch Children’s Research Institute (MCRI) researchers have received a Norman Beischer Medical Research Foundation grant to increase diagnosis rates for a rare reproductive disorder.

Associate Professor Katie Ayers, Professor Sonia Grover and Chloe Hanna were awarded the $70,000 innovation grant to improve genetic testing for Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome and boost health outcomes for girls and women.

MRKH is a rare condition that impacts 1 in 5,000 females and affects the development of the uterus, cervix and upper vaginal canal and can cause skeletal issues. Many women with the condition are also unable to carry a pregnancy.

Associate Professor Ayers said the funding would help to differentiate between several subtypes of MRKH and establish how they occur during development.

Image: Professor Katie Ayers

“Optimal care for girls and women with MRKH starts with a correct diagnosis, as different subtypes result in different symptoms and outcomes,” she said.

“This grant will allow our team to use cutting-edge genomic and cellular technology to provide patients with an accurate, clinical genetic diagnosis as well as a thorough understanding of their reproductive options.”

Associate Professor Ayers said her research would also address an existing healthcare inequity.

“Fewer than 10 per cent of patients with MRKH currently receive a genetic diagnosis for their condition and this is due to a limited understanding of the specific genes that are disrupted in this condition,” she said.

“By using more advanced genomic technology techniques to address this knowledge gap we can better support patients through the physical and psychological burden.”

Patient advocate Kristiina Siiankoski, formerly at MRKH Australia, will also contribute to the research.

Read more about MCRI’s reproductive development research.