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

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 cha...

Descrizione completa

Dettagli Bibliografici

Autori principali:	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
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Nature Portfolio 2025-02-01
Serie:	npj Genomic Medicine
Accesso online:	https://doi.org/10.1038/s41525-025-00474-8
Tags:	Aggiungi Tag Nessun Tag, puoi essere il primo ad aggiungerne!!