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...
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| Format: | Article |
| Language: | English |
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Nature Portfolio
2025-02-01
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| Series: | npj Genomic Medicine |
| Online Access: | https://doi.org/10.1038/s41525-025-00474-8 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Katherine B. Howell |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-4bfb9a29ac504111b3f5d56f21aba488 |
| institution | DOAJ |
| issn | 2056-7944 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | npj Genomic Medicine |
| spelling | doaj-art-4bfb9a29ac504111b3f5d56f21aba4882025-08-20T03:03:50ZengNature Portfolionpj Genomic Medicine2056-79442025-02-0110111410.1038/s41525-025-00474-8International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric diseaseKatherine B. Howell0Susan M. White1Amy McTague2Alissa M. D’Gama3Gregory Costain4Annapurna Poduri5Ingrid E. Scheffer6Vann Chau7Lindsay D. Smith8Sarah E. M. Stephenson9Monica Wojcik10Andrew Davidson11Neil Sebire12Piotr Sliz13Alan H. Beggs14Lyn S. Chitty15Ronald D. Cohn16Christian R. Marshall17Nancy C. Andrews18Kathryn N. North19J. Helen Cross20John Christodoulou21Stephen W. Scherer22Murdoch Children’s Research InstituteMurdoch Children’s Research InstituteDevelopmental Neurosciences, UCL Great Ormond Street Institute of Child HealthDepartment of Pediatrics, Boston Children’s Hospital and Harvard Medical SchoolDivision of Clinical and Metabolic Genetics, The Hospital for Sick ChildrenDepartment of Pediatrics, Boston Children’s Hospital and Harvard Medical SchoolMurdoch Children’s Research InstituteDepartment of Paediatrics, University of TorontoGenetics and Genome Biology Program, The Hospital for Sick ChildrenMurdoch Children’s Research InstituteDepartment of Pediatrics, Boston Children’s Hospital and Harvard Medical SchoolMurdoch Children’s Research InstitutePopulation, Policy and Practice Department, UCL GOS Institute of Child HealthDepartment of Pediatrics, Boston Children’s Hospital and Harvard Medical SchoolDepartment of Pediatrics, Boston Children’s Hospital and Harvard Medical SchoolNorth Thames Genomic Laboratory Hub, Great Ormond Street NHS Foundation TrustDivision of Clinical and Metabolic Genetics, The Hospital for Sick ChildrenGenetics and Genome Biology Program, The Hospital for Sick ChildrenDepartment of Pediatrics, Boston Children’s Hospital and Harvard Medical SchoolMurdoch Children’s Research InstituteDevelopmental Neurosciences, UCL Great Ormond Street Institute of Child HealthMurdoch Children’s Research InstituteGenetics and Genome Biology Program, The Hospital for Sick ChildrenAbstract 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.https://doi.org/10.1038/s41525-025-00474-8 |
| spellingShingle | 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 International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease npj Genomic Medicine |
| title | International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease |
| title_full | International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease |
| title_fullStr | International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease |
| title_full_unstemmed | International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease |
| title_short | International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease |
| title_sort | international precision child health partnership ipchip an initiative to accelerate discovery and improve outcomes in rare pediatric disease |
| url | https://doi.org/10.1038/s41525-025-00474-8 |
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