Evidence map›Paper›PMID 40016282›Full record

ReviewNPJ genomic medicine2025

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 and 13 more

Abstract readReview
In one paragraph

Review in NPJ genomic medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

10 citing papers in PubMed.

  1. Review
  2. Review
  3. Article
  4. Article
  5. Article
  6. The Potential of Digital Twins for Pediatric Rare Diseases.CPT: pharmacometrics & systems pharmacology · 2026
    Review
  7. Article
  8. Review
  9. Review
  10. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

23 authors.

Katherine B HowellMurdoch Children's Research Institute, Melbourne, VIC, Australia.ORCID http://orcid.org/0000-0002-5469-8411
Susan M WhiteMurdoch Children's Research Institute, Melbourne, VIC, Australia.
Amy McTagueDevelopmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.ORCID http://orcid.org/0000-0002-0334-2909
Alissa M D'GamaDepartment of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
Gregory CostainDivision of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.ORCID http://orcid.org/0000-0003-0099-9945
Annapurna PoduriDepartment of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0002-7350-5136
Ingrid E SchefferMurdoch Children's Research Institute, Melbourne, VIC, Australia.ORCID http://orcid.org/0000-0002-2311-2174
Vann ChauDepartment of Paediatrics, University of Toronto, Toronto, ON, Canada.
Lindsay D SmithGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
Sarah E M StephensonMurdoch Children's Research Institute, Melbourne, VIC, Australia.
Monica WojcikDepartment of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0002-8162-5031
Andrew DavidsonMurdoch Children's Research Institute, Melbourne, VIC, Australia.
Neil SebirePopulation, Policy and Practice Department, UCL GOS Institute of Child Health, London, UK.
Piotr SlizDepartment of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0002-6522-0835
Alan H BeggsDepartment of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0001-8818-0568
Lyn S ChittyNorth Thames Genomic Laboratory Hub, Great Ormond Street NHS Foundation Trust, London, UK.
Ronald D CohnDivision of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.
Christian R MarshallGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.ORCID http://orcid.org/0000-0002-4003-7671
Nancy C AndrewsDepartment of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0003-0243-4462
Kathryn N NorthMurdoch Children's Research Institute, Melbourne, VIC, Australia.
J Helen CrossDevelopmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.
John Christodoulou *Murdoch Children's Research Institute, Melbourne, VIC, Australia. john.christodoulou@mcri.edu.au.ORCID http://orcid.org/0000-0002-8431-0641
Stephen W Scherer *Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada. Stephen.Scherer@sickkids.ca.ORCID http://orcid.org/0000-0002-8326-1999

Funding

Genetic Analysis and Manipulation Core (GAEC)P50HD105351 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI Hisashi Umemori · 2021 to 2026
$9.4M
Neonatal Research Training ProgramT32HD098061 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI Stella Kourembanas, Martha C. Sola-Visner · 2019 to 2026
$4.0M
NICHD NIH HHS P50 HD105351NICHD NIH HHS T32 HD098061
6 · The paper itself

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.

Identifiers

PMID40016282
PMCPMC11868529

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.