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

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Title: International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease.
Authors: Howell KB; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Royal Children's Hospital, Melbourne, VIC, Australia., White SM; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Victorian Clinical Genetics Service, Melbourne, VIC, Australia., McTague A; Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Institute of Child Health, London, UK., D'Gama AM; Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Children's Rare Disease Cohorts, Boston Children's Hospital, Boston, MA, USA.; Division of Newborn Medicine, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA., Costain G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Department of Paediatrics, University of Toronto, Toronto, ON, Canada., Poduri A; Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Children's Rare Disease Cohorts, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA., Scheffer IE; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Royal Children's Hospital, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Department of Medicine, Epilepsy Research Centre, Austin Hospital, University of Melbourne, Melbourne, VIC, Australia.; Florey Institute of Neuroscience and Mental Health, Melbourne, VIC, Australia., Chau V; Department of Paediatrics, University of Toronto, Toronto, ON, Canada.; Department of Pediatrics (Neurology), The Hospital for Sick Children, Toronto, ON, Canada., Smith LD; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada., Stephenson SEM; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Wojcik M; Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Children's Rare Disease Cohorts, Boston Children's Hospital, Boston, MA, USA.; Division of Newborn Medicine, Boston Children's Hospital, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Davidson A; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Royal Children's Hospital, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Sebire N; Population, Policy and Practice Department, UCL GOS Institute of Child Health, London, UK., Sliz P; Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Children's Rare Disease Cohorts, Boston Children's Hospital, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, MA, USA., Beggs AH; Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Children's Rare Disease Cohorts, Boston Children's Hospital, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Chitty LS; North Thames Genomic Laboratory Hub, Great Ormond Street NHS Foundation Trust, London, UK.; Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK., Cohn RD; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Department of Paediatrics, University of Toronto, Toronto, ON, Canada., Marshall CR; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.; Division of Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada., Andrews NC; Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA., North KN; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Cross JH; Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Institute of Child Health, London, UK.; National Institute of Health Research (NIHR) Biomedical Research Centre at Great Ormond Street Institute of Child Health, London, UK., Christodoulou J; Murdoch Children's Research Institute, Melbourne, VIC, Australia. john.christodoulou@mcri.edu.au.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia. john.christodoulou@mcri.edu.au.; Victorian Clinical Genetics Service, Melbourne, VIC, Australia. john.christodoulou@mcri.edu.au., Scherer SW; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada. Stephen.Scherer@sickkids.ca.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada. Stephen.Scherer@sickkids.ca.
Source: NPJ genomic medicine [NPJ Genom Med] 2025 Feb 27; Vol. 10 (1), pp. 13. Date of Electronic Publication: 2025 Feb 27.
Publication Type: Journal Article; Review
Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE
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  Data: International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease.
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  Data: <searchLink fieldCode="AU" term="%22Howell+KB%22">Howell KB</searchLink>; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Royal Children's Hospital, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22White+SM%22">White SM</searchLink>; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Victorian Clinical Genetics Service, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22McTague+A%22">McTague A</searchLink>; Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Institute of Child Health, London, UK.<br /><searchLink fieldCode="AU" term="%22D'Gama+AM%22">D'Gama AM</searchLink>; Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Children's Rare Disease Cohorts, Boston Children's Hospital, Boston, MA, USA.; Division of Newborn Medicine, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Costain+G%22">Costain G</searchLink>; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Department of Paediatrics, University of Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Poduri+A%22">Poduri A</searchLink>; Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Children's Rare Disease Cohorts, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Scheffer+IE%22">Scheffer IE</searchLink>; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Royal Children's Hospital, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Department of Medicine, Epilepsy Research Centre, Austin Hospital, University of Melbourne, Melbourne, VIC, Australia.; Florey Institute of Neuroscience and Mental Health, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Chau+V%22">Chau V</searchLink>; Department of Paediatrics, University of Toronto, Toronto, ON, Canada.; Department of Pediatrics (Neurology), The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Smith+LD%22">Smith LD</searchLink>; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Stephenson+SEM%22">Stephenson SEM</searchLink>; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Wojcik+M%22">Wojcik M</searchLink>; Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Children's Rare Disease Cohorts, Boston Children's Hospital, Boston, MA, USA.; Division of Newborn Medicine, Boston Children's Hospital, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Davidson+A%22">Davidson A</searchLink>; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Royal Children's Hospital, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Sebire+N%22">Sebire N</searchLink>; Population, Policy and Practice Department, UCL GOS Institute of Child Health, London, UK.<br /><searchLink fieldCode="AU" term="%22Sliz+P%22">Sliz P</searchLink>; Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Children's Rare Disease Cohorts, Boston Children's Hospital, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Beggs+AH%22">Beggs AH</searchLink>; Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Children's Rare Disease Cohorts, Boston Children's Hospital, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Chitty+LS%22">Chitty LS</searchLink>; North Thames Genomic Laboratory Hub, Great Ormond Street NHS Foundation Trust, London, UK.; Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.<br /><searchLink fieldCode="AU" term="%22Cohn+RD%22">Cohn RD</searchLink>; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Department of Paediatrics, University of Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Marshall+CR%22">Marshall CR</searchLink>; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.; Division of Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Andrews+NC%22">Andrews NC</searchLink>; Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22North+KN%22">North KN</searchLink>; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Cross+JH%22">Cross JH</searchLink>; Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Institute of Child Health, London, UK.; National Institute of Health Research (NIHR) Biomedical Research Centre at Great Ormond Street Institute of Child Health, London, UK.<br /><searchLink fieldCode="AU" term="%22Christodoulou+J%22">Christodoulou J</searchLink>; Murdoch Children's Research Institute, Melbourne, VIC, Australia. john.christodoulou@mcri.edu.au.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia. john.christodoulou@mcri.edu.au.; Victorian Clinical Genetics Service, Melbourne, VIC, Australia. john.christodoulou@mcri.edu.au.<br /><searchLink fieldCode="AU" term="%22Scherer+SW%22">Scherer SW</searchLink>; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada. Stephen.Scherer@sickkids.ca.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada. Stephen.Scherer@sickkids.ca.
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