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

npj Genomic Medicine, Год журнала: 2025, Номер 10(1)

Опубликована: Фев. 27, 2025

Advances in genomic technologies have revolutionized the diagnosis of rare genetic diseases, leading to emergence precision therapies. However, there remains significant effort ahead ensure promise medicine translates improved outcomes. Here, we discuss challenges advancing child health and highlight how international collaborations such as International Precision Child Health Partnership, which embed research into clinical care, can maximize benefits for children globally.

Язык: Английский

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Integrative genetic analysis: cornerstone of precision psychiatry

Molecular Psychiatry, Год журнала: 2024, Номер unknown

Опубликована: Авг. 30, 2024

Язык: Английский

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Early Intervention services in the era of genomic medicine: setting a research agenda

Pediatric Research, Год журнала: 2024, Номер unknown

Опубликована: Окт. 22, 2024

Abstract Newborn genomic sequencing (NBSeq) has the potential to substantially improve early detection of rare genetic conditions, allowing for pre-symptomatic treatment optimize outcomes. Expanding conceptions clinical utility NBSeq include earlier access behavioral intervention support acquisition core motor, cognitive, communication, and adaptive skills during critical windows in development. However, important questions remain about equitable programs growing number infants identified with a condition via NBSeq. We review current public health, clinical, research landscape, highlight ongoing international efforts collect population-level data on healthy newborns. then explore challenges facing specific Early Intervention (EI) system—the US federally supported “Part C” system—for meeting developmental needs young children diagnoses, including structural limitations related funding, variable eligibility criteria, lack collaboration newborn screening programs. conclude set guide future at intersection NBSeq, screening, EI, which once answered, can steer policy ensure that EI service systems optimally impacted by broader implementation Impact Existing literature benefits genome newborns tends focus provision medical interventions, less attention very conditions. This outlines diagnosed conditions infancy describes strengths United States system (IDEA Part C) those needs.

Язык: Английский

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A genetics-first clinic for catching developmental conditions early: Q&A with Jacob Vorstman

The Transmitter, Год журнала: 2024, Номер unknown

Опубликована: Янв. 1, 2024

Язык: Английский

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