International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease

Katherine B Howell; Susan M White; Amy McTague; Alissa M D'Gama; Gregory Costain; Annapurna Poduri; Ingrid E Scheffer; Vann Chau; Lindsay D Smith; Sarah E M Stephenson; Monica Wojcik; Andrew Davidson; Neil Sebire; Piotr Sliz; Alan H Beggs; Lyn S Chitty; Ronald D Cohn; Christian R Marshall; Nancy C Andrews; Kathryn N North; J Helen Cross; John Christodoulou; Stephen W Scherer

doi:10.1038/s41525-025-00474-8

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.

Authors

Katherine B Howell^{1

2}, Susan M White^{1

3

4}, Amy McTague^{5

6}, Alissa M D'Gama^{7

8

9

10}, Gregory Costain^{11

12

13

14}, Annapurna Poduri^{7

8

10}, Ingrid E Scheffer^{1

2

3

15

16}, Vann Chau^{14

17}, Lindsay D Smith¹², Sarah E M Stephenson^{1

3}, Monica Wojcik^{7

8

9

18

19}, Andrew Davidson^{1

2

3}, Neil Sebire²⁰, Piotr Sliz^{7

8

18

21}, Alan H Beggs^{7

8

18

19}, Lyn S Chitty^{22

23}, Ronald D Cohn^{11

12

13

14}, Christian R Marshall^{12

24}, Nancy C Andrews⁷, Kathryn N North^{1

3}, J Helen Cross^{5

6

25}, John Christodoulou^#^{26

27

28}, Stephen W Scherer^#^{29

30}

Affiliations

¹ Murdoch Children's Research Institute, Melbourne, VIC, Australia.
² Royal Children's Hospital, Melbourne, VIC, Australia.
³ Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
⁴ Victorian Clinical Genetics Service, Melbourne, VIC, Australia.
⁵ Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.
⁶ Department of Neurology, Great Ormond Street Institute of Child Health, London, UK.
⁷ Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
⁸ Children's Rare Disease Cohorts, Boston Children's Hospital, Boston, MA, USA.
⁹ Division of Newborn Medicine, Boston Children's Hospital, Boston, MA, USA.
¹⁰ Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
¹¹ Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.
¹² Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
¹³ Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
¹⁴ Department of Paediatrics, University of Toronto, Toronto, ON, Canada.
¹⁵ Department of Medicine, Epilepsy Research Centre, Austin Hospital, University of Melbourne, Melbourne, VIC, Australia.
¹⁶ Florey Institute of Neuroscience and Mental Health, Melbourne, VIC, Australia.
¹⁷ Department of Pediatrics (Neurology), The Hospital for Sick Children, Toronto, ON, Canada.
¹⁸ The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.
¹⁹ Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
²⁰ Population, Policy and Practice Department, UCL GOS Institute of Child Health, London, UK.
²¹ Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, MA, USA.
²² North Thames Genomic Laboratory Hub, Great Ormond Street NHS Foundation Trust, London, UK.
²³ Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.
²⁴ Division of Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada.
²⁵ National Institute of Health Research (NIHR) Biomedical Research Centre at Great Ormond Street Institute of Child Health, London, UK.
²⁶ Murdoch Children's Research Institute, Melbourne, VIC, Australia. john.christodoulou@mcri.edu.au.
²⁷ Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia. john.christodoulou@mcri.edu.au.
²⁸ Victorian Clinical Genetics Service, Melbourne, VIC, Australia. john.christodoulou@mcri.edu.au.
²⁹ Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada. Stephen.Scherer@sickkids.ca.
³⁰ Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada. Stephen.Scherer@sickkids.ca.

^# Contributed equally.

Abstract

Advances in genomic technologies have revolutionized the diagnosis of rare genetic diseases, leading to the emergence of precision therapies. However, there remains significant effort ahead to ensure the promise of precision medicine translates to improved outcomes. Here, we discuss the challenges in advancing precision child health and highlight how international collaborations such as the International Precision Child Health Partnership, which embed research into clinical care, can maximize benefits for children globally.

Publication types

Review

Abstract

Publication types

Grants and funding