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<p>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.</p>

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

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年2月27日

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  • 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

摘要

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.