The Royal Children’s Hospital (RCH) and the Murdoch Children’s Research Institute (MCRI) will be launching the Genetics Evaluation for Management and Support of low Tone (GEMStone) Study, thanks to the generosity of the Good Friday Appeal. This life-changing study will focus on infants with hypotonia, also known as low muscle tone, a symptom that can signal a wide range of underlying conditions affecting the brain, nerves, or muscles.

This novel study will have a significant impact on the lives of babies battling rare genetic conditions – specifically those with low muscle tone – through the use of genomic technology. This transformative technology can provide children battling these conditions and their families answers sooner, allowing them to access the right care and support.

“The diagnosis is challenging because many different types of underlying conditions can present with low muscle tone,” explained Professor Zornitza Stark, clinical geneticist at the Victorian Clinical Genetics Services, co-lead of the Translational Genomics Research Group at the Murdoch Children’s Research Institute, and one of the leads of the GEMSTone Study.

“By doing the dynamic testing upfront and getting to an answer earlier, we are actually sparing babies a number of other investigations and providing certainty for families with some information about outlook,” she continued.

Currently, only about half of affected babies receive a clear diagnosis. Many families are left facing uncertainty and invasive testing, such as MRIs or muscle biopsies, without any answers. By pooling expertise and patient data, the study aims to identify genetic causes much faster.

Impressively, it will aim to deliver results in as little as three weeks – dramatically reducing the current three- to four-month wait.

“By getting results back in a couple of weeks, families don’t have to wait months wondering what their child has. Even if there isn’t a treatment available, knowing the diagnosis allows families to plan, access the right services, and understand what to expect,” explained Zornitza.

Over the next two years, the RCH aims to enroll around 80 babies through the GEMStone Study, with similar numbers across its world-leading partner hospitals, including the Boston Children’s Hospital, SickKids Toronto and the Great Ormond Street Hospital. This international collaboration will allow researchers to share knowledge, improve testing techniques, and generate meaningful data faster than would be possible at a single site.

“We get to learn from each other’s experience, which is really exciting. Genomic technology is evolving fast, and collaboration helps us make progress more quickly for families,” explained Zornitza.

While only a small proportion of rare conditions currently have approved therapies, early knowledge of a child’s genetic condition is critical for timely intervention when options are available.

Initiatives like GEMStone ensure the RCH remains at the forefront of rapid genomic testing, reshaping the future of care for children with rare genetic conditions. Zornitza and the entire GEMStone team are profoundly thankful to the community whose generosity has turned this vision into reality.

“We are deeply grateful to the Good Friday Appeal for their support and look forward to the study’s outcomes as we work hard to advance this life-changing technology,” she concluded.

“The GEMStone Study is helping strengthen the hospital’s position as a global leader in genomic testing. It aims to ensure that children with rare and genetic conditions receive the treatments they need to thrive, through faster, less invasive, and more accurate diagnoses. We are deeply grateful to the Good Friday Appeal for their support and look forward to the study’s outcomes as we work hard to advance this life-changing technology.”

– Professor Zornitza Stark, Clinical Geneticist at the Victorian Clinical Genetics Services; Clinical Lead, Australian Genomics; and is a Co-Lead of the Translational Genomics Research Group at the Murdoch Children’s Research Institute