Litcius/Paper detail

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 Smith, Sarah Stephenson, Monica H. Wojcik, Andrew R. Davidson, Neil J. 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

2025npj Genomic Medicine12 citationsDOIOpen Access PDF

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.

Topics & Concepts

General partnershipChild healthRare diseaseMedicineDiseasePediatricsBusinessInternal medicineFinanceGenomics and Rare DiseasesNeurogenetic and Muscular Disorders ResearchImmunodeficiency and Autoimmune Disorders