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
Center for Genetic Medicine, Children's National Research Institute, Washington, DC, USA.
Honors College, University of Maryland, College Park, MD, USA.
Pediatr Res. 2025 Jan 3. doi: 10.1038/s41390-024-03793-1.
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.
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.
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.
Here, we present the Consortium's formation and overarching study design.
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.
产前传播的病毒可对发育中的大脑造成严重损害。产前脑损伤和产后神经发育结局存在无法解释的变异性,提示存在疾病修饰因素。值得注意的是,产前寨卡病毒感染可导致一系列神经发育障碍,包括先天性寨卡综合征。目前,尚无预防性治疗方法或治愈手段。产前感染与神经发育遗传学(PING)联盟旨在确定寨卡病毒及其他产前病毒感染所致脑损伤和不良神经发育结局的调节因素。
该联盟汇总了在六个国家的23个研究中心进行的八项多中心研究的信息,以建立一个不断扩大的临床和基因组数据库,从中挖掘病毒诱导脑损伤的调节因素。合作伙伴包括美国儿童国家医院、哥伦比亚国家卫生研究所、巴西妊娠期寨卡病毒感染自然史项目、巴西费尔南德斯·菲格雷拉寨卡研究所、疾病控制与预防中心以及国立卫生研究院。
我们已招募了4102名母亲和3877名婴儿,获得了3063份生物样本及涵盖80多个表型领域和5000个变量的临床数据。到目前为止,我们已对1226名参与者进行了全外显子组测序。
在此,我们介绍该联盟的组建情况及总体研究设计。
PING联盟汇聚了研究人员和机构,以确定病毒诱导脑损伤和神经功能缺损的原因。拥有来自8000多名患者数据的临床和基因组数据库将为各种基础和临床研究奠定基础。