Global partnership to revolutionise the treatment of childhood diseases and deliver better health outcomes through genomic medicine

The International Precision Child Health Partnership (IPCHiP) is the first major global initiative focused on advancing genomics in paediatric care. IPCHiP brings together world-renowned children’s hospitals in Australia, Canada, the UK, and the USA to tackle the challenges of diagnosing and treating rare genetic conditions.

IPCHiP has been designated a ‘Driver Project’ of the Global Alliance for Genomics and Health (GA4GH). 

Global collaborations

As an international consortium IPCHiP leverages the medical and scientific expertise from Melbourne Children's Campus (including Murdoch Children's Research Institute, The Royal Children's Hospital and the Uuniversity of Melbourne, Department of Paediatrics), SickKids (Toronto), Boston Children's Hospital, and UCL Great Ormond Street Institute of Child Health (GOS ICH) and UK Hospital (GOSH) .

Together, we harnesses cutting-edge genomic technologies to accelerate discovery, improve diagnostics, and develop new treatments for rare and complex childhood conditions.

The challenge

Rare genetic conditions such as neurological and metabolic disorders are often complex and difficult to diagnose. Many children face:

• Delayed or missed diagnoses
• Ineffective treatments
• Prolonged uncertainty and suffering

Infants with symptoms like hypotonia (low muscle tone) are especially vulnerable, as current testing methods may not provide clear answers. Limited access to advanced genetic testing and unequal availability of genomic technologies further widen the gap in care.

Our mission

IPCHiP is committed to transforming paediatric care through:

• Collaborative research that leverages global expertise
• Data sharing to accelerate genomic discovery
• Knowledge exchange to address the most pressing challenges in child health

Our goals

By integrating whole genome sequencing into routine clinical care, IPCHiP is working to:

• Improve diagnosis of rare and complex conditions
• Enable personalised treatment decisions
• Develop new therapeutic targets and treatments
• Ensure equitable access to cutting-edge diagnostic tools

This global effort is setting a new standard for precision medicine in paediatrics to deliver real, lasting benefits to children and families around the world.

More information

• Transforming clinical care for children with rare genetic diseases (2025)
• Genomics to revolutionise treatment of childhood rare diseases (2025) UCL News
• International collaboration drives progress for Precision Child Health, (2025) SickKids
• Accolade for international collaboration working to better treat childhood conditions (2023)

Gene-STEPS project

IPCHiP’s initial flagship project, Gene-STEPS found that rapid genome sequencing was highly effective at diagnosing babies with epilepsy and lead to better, more targeted treatment options in most cases.

The research, published in The Lancet Neurology, reported rapid genome sequencing had a high diagnostic rate of 43 per cent for infantile epilepsy, supporting the need for greater access to the cutting-edge technology in clinical care.

GEMStone study

IPCHiP is expanding its work on rapid genomic testing to other genetic conditions that could benefit from a prompt diagnosis.

The GEMStone study focuses on newborns with hypotonia, where a baby is born with low muscle tone, which can lead to difficulties in feeding, holding their head up and achieving developmental milestones.

The project initially aims to enroll around 80 babies, 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.

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

Read more on GEMStone

Research lead

Professor Kathryn North, IPCHiP Principal Investigator

Key researchers

• Professor John Christodoulou, MCRI, Theme Director, Genomic Medicine
• Professor Steve Scherer, SickKids, Chief of Research
• Associate Professor Katherine Howell, MCRI, Group Leader, Neuroscience
• Nancy Andrews, Boston Children’s Hospital, Executive Vice President and Chief Scientific Officer
• Helen Cross, Director of the UCL GOS Institute of Child Health

IPCHiP Executive

• Alan Beggs, Boston Children's Hospital
• Piotr Sliz , Boston Children's Hospital
• Christian Marshall, SickKids

Funding & collaborations

Each partner institution secures its own funding, with support from a wide range of organisations, including:

• National Institute of Child Health and Human Development
• American Academy of Pediatrics
• One8 Foundation
• Robinson Family Initiative for Transformational Research
• Canadian Institutes of Health Research
• Epilepsy Canada
• Ontario Brain Institute
• University of Toronto McLaughlin Centre
• The Royal Children’s Hospital Foundation
• Murdoch Children’s Research Institute (MCRI)
• Victorian Government’s Operational Infrastructure Support Program
• Melbourne Children’s Clinician Scientist Fellowship
• National Health and Medical Research Council (NHMRC)
• UK Medical Research Council (MRC)
• GOSH Charity (VS0122)
• Rosetrees Trust
• GOSH NIHR Biomedical Research Centre

Featured publications

Howell KB, White SM, McTague A, D'Gama AM, Costain G, Poduri A, Scheffer IE, Chau V, Smith LD, Stephenson SEM, Wojcik M, Davidson A, Sebire N, Sliz P, Beggs AH, Chitty LS, Cohn RD, Marshall CR, Andrews NC, North KN, Cross JH, Christodoulou J, Scherer SW. International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease. NPJ Genom Med. 2025 Feb 27;10(1):13. doi: 10.1038/s41525-025-00474-8. PMID: 40016282; PMCID: PMC11868529.

D'Gama AM, Mulhern S, Sheidley BR, Boodhoo F, Buts S, Chandler NJ, Cobb J, Curtis M, Higginbotham EJ, Holland J, Khan T, Koh J, Liang NSY, McRae L, Nesbitt SE, Oby BT, Paternoster B, Patton A, Rose G, Scotchman E, Valentine R, Wiltrout KN; Gene-STEPS Study Group; IPCHiP Executive Committee; Hayeems RZ, Jain P, Lunke S, Marshall CR, Rockowitz S, Sebire NJ, Stark Z, White SM, Chitty LS, Cross JH, Scheffer IE, Chau V, Costain G, Poduri A, Howell KB, McTague A. Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study. Lancet Neurol. 2023 Sep;22(9):812-825. doi: 10.1016/S1474-4422(23)00246-6. Erratum in: Lancet Neurol. 2023 Dec;22(12):e13. doi: 10.1016/S1474-4422(23)00411-8. PMID: 37596007; PMCID: PMC11860300.

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. Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review. JAMA Neurol. 2022 Apr 1;79(4):405-413. doi: 10.1001/jamaneurol.2022.0067. PMID: 35254387; PMCID: PMC10134401.

Contact us

For more information, please contact us.

Professor John Christodoulou
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