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Pediatric research · 2025

Building a growing genomic repository for maternal and fetal health through the PING Consortium.

СтатьяНазвание и аннотация: Перевод в очереди
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Abdelmalek Clara M, Singh Shriya, Fasil Blain, Horvath Allison R, Mulkey Sarah B, Curé Carlos, Campos Maribel, Cavalcanti Denise P, Tong Van T, Mercado Marcela, Daza Marcela, Benavides Mónica Marcela, Acosta Jacqueline, Gilboa Suzanne, Valencia Diana, Sancken Christina L, Newton Suzanne, Scalabrin Deolinda M F, Mussi-Pinhata Marisa M, Vasconcelos Zilton, Chakhtoura Nahida, Moye Jack, Leslie Elizabeth J, Bulas Dorothy, Vezina Gilbert, Marques Fernanda J P, Leyser Marcio, Del Campo Miguel, Vilain Eric, DeBiasi Roberta L, Wang Tongguang, Nath Avindra, Haydar Tarik, Muenke Max, Mansour Tamer A, du Plessis Adre J, Murray Jeffrey C, Cordero José F, Kousa Youssef A

Аннотация

BACKGROUND: Prenatally transmitted viruses can cause severe damage to the developing brain. There is unexplained variability in prenatal brain injury and postnatal neurodevelopmental outcomes, suggesting disease modifiers. Of note, prenatal Zika infection can cause a spectrum of neurodevelopmental disorders, including congenital Zika syndrome. Currently, there is no preventative treatment or cure. The Prenatal Infection and Neurodevelopmental Genetics (PING) Consortium aims to identify modulators of brain injury and adverse neurodevelopmental outcomes for Zika and other prenatal viral infections.

METHODS: The Consortium pools information from eight multi-site studies conducted at 23 research centers in six countries to build a growing clinical and genomic repository, which is being mined for modifiers of virally induced brain injury. Partners include Children's National Hospital (USA), Instituto Nacional de Salud (Colombia), the Natural History of Zika Virus Infection in Gestation program (Brazil), Zika Instituto Fernandes Figueira (Brazil), the Centers for Disease Control and Prevention, and the National Institutes of Health.

RESULTS: We have enrolled 4102 mothers and 3877 infants with 3063 biological samples and clinical data covering over 80 phenotypic fields and 5000 variables. Thus far, we have performed whole exome sequencing on 1226 participants.

CONCLUSION: Here, we present the Consortium's formation and overarching study design.

IMPACT: The PING Consortium brings together investigators and institutions to determine the causes of virally induced brain injury and neurological deficits. The clinical and genomic repository, with data from over 8000 patients, will serve as a foundation for a variety of basic and clinical studies.

Предметные рубрики MeSH

ИП Урсолов Владлен Сергеевич

ИНН 500118482352 · ОГРНИП 314500117700049

Реквизиты и контакты