GEMSTone Study

Project status: Active

Research area: Genomic Medicine > Translational Genomics

Genetic Evaluation for Management and Support of low Tone (GEMSTone) study

The GEMSTone Study is helping change the diagnostic journey for babies with rare genetic conditions, giving families answers sooner, and reducing the need for invasive testing.

Only about half of babies with low muscle tone (hypotonia) receive a clear diagnosis, potentially delaying access to the care and support they need. By using rapid genomic testing, the study aims to address this critical gap.

The GEMSTone Study is helping change the diagnostic journey for babies with rare genetic conditions, giving families answers sooner, and reducing the need for invasive testing.

Only about half of babies with low muscle tone (hypotonia) receive a...

The GEMSTone Study is helping change the diagnostic journey for babies with rare genetic conditions, giving families answers sooner, and reducing the need for invasive testing.

The challenge

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

Early diagnosis is critical. Without it, families may experience delays in accessing the right care, treatment, and support.

About the study

The International Precision Child Health Partnership (IPCHiP) is expanding its work in rapid genomic testing to support earlier diagnosis of rare genetic conditions.
Building on the success of the Gene-STEPS program, IPCHiP’s next initiative, the GEMSTone study, focuses on newborns and infants with hypotonia (low muscle tone).

Hypotonia can lead to:

Developmental delays
Feeding difficulties
Delayed motor milestones
Ongoing health challenges

The GEMSTone study uses advanced genomic sequencing to identify underlying genetic causes faster, helping families access answers and care sooner.

How GEMSTone works

GEMSTone focuses on newborns with hypotonia, where reduced muscle tone affects a baby’s ability to feed effectively, hold their head up, or reach key developmental milestones.

Over the next two years, The Royal Chilren'd Hospital (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 (London).

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.

Rapid genomic testing has the potential to transform care for babies with rare genetic conditions by:

Reducing the need for invasive procedures
Providing faster, more accurate diagnoses
Enabling earlier access to targeted care and support

For families, this means less uncertainty, and a clearer path forward.

Funding & collaborations

Thanks to our funders, and supporters.

This project is generously funded by the Good Friday Appeal via the Royal Childrens Hospital Foundation.

This study is a partnership between Murdoch Children’s Research Institute (MCRI), The Royal Children’s Hospital, SickKids in Toronto, Boston Children's Hospital, UCL Great Ormond Street Institute for Child Health (GOS ICH) and the Great Ormond Street Hospital (GOSH) in London.

Research team

Professor Zornitza Stark, Clinical Geneticist at the Victorian Clinical Genetics Services (VCGS) and Co-Lead of the Translational Genomics research group, MCRI
Dr Eppie Yiu, Honorary Fellow Manager, Neuroscience group, MCRI
Associate Professor Sebastian Lunke, Genetics & Genomics Innovation, VCGS and Co-Lead of the Translational Genomics research group, MCRI
Jade Caruana, Senior Project Coordinator, Translational Genomics research group, MCRI
Manny Jacobs, Genetic Counsellor, Translational Genomics research group, MCRI & VCGS
Justine Adams, Physiotherapist, Neuroscience group, MCRI.

Publications and research outputs

Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study.
Morton SU, Costain G, French CE, Wakeling E, Szuto A, Christodoulou J, Cohn R, Darras BT, Wojcik MH, D'Gama AM, Dowling JJ, Lunke S, Muntoni F, Raymond L, Rowitch D, Beggs AH, Stark Z, Agrawal PB.Neurology. 2025 Jan 14;104(1):e210106. doi: 10.1212/WNL.0000000000210106. Epub 2024 Dec 19.PMID: 39700446

Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review.
Morton SU, Christodoulou J, Costain G, Muntoni F, Wakeling E, Wojcik MH, French CE, Szuto A, Dowling JJ, Cohn RD, Raymond FL, Darras BT, Williams DA, Lunke S, Stark Z, Rowitch DH, Agrawal PB.JAMA Neurol. 2022 Apr 1;79(4):405-413. doi: 10.1001/jamaneurol.2022.0067.PMID: 35254387