Enabling precision medicine in neonatology, an integrated repository for preterm birth research

  title={Enabling precision medicine in neonatology, an integrated repository for preterm birth research},
  author={Marina Sirota and Cristel G. Thomas and Rebecca Liu and Maya Zuhl and Payal Banerjee and Ronald J. Wong and Cecele Quaintance and Rita Leite and Jessica E. Cott Chubiz and Rebecca L Anderson and Joanne Chappell and Mara Kim and William A. Grobman and Ge Zhang and Antonis Rokas and Sarah K. England and Samuel Parry and Gary M. Shaw and Joe Leigh Simpson and Elizabeth Thomson and Atul Janardhan Butte},
  journal={Scientific Data},
Preterm birth, or the delivery of an infant prior to 37 weeks of gestation, is a significant cause of infant morbidity and mortality. In the last decade, the advent and continued development of molecular profiling technologies has enabled researchers to generate vast amount of ‘omics’ data, which together with integrative computational approaches, can help refine the current knowledge about disease mechanisms, diagnostics, and therapeutics. Here we describe the March of Dimes’ Database for… 

Understanding health disparities

Potential analytic frameworks that provides both a common understanding and, ultimately, the basis for effective, ameliorative action are described.

Single cell transcriptional signatures of the human placenta in term and preterm parturition

A catalogue of cell types and transcriptional profiles in the human placenta is provided, shedding light on the molecular underpinnings and non-invasive prediction of the physiologic and pathologic parturition.

Towards personalized medicine in maternal and child health: integrating biologic and social determinants

David K. Stevenson, Ronald J. Wong, Nima Aghaeepour, Ivana Maric, Martin S. Moufarrej, Cecele C. Quaintance, Stephen R. Snyder, Karl G. Sylvester, Shiying Hao, Paul H. Wise and Michael Katz.

Multiomics Characterization of Preterm Birth in Low- and Middle-Income Countries

This diagnostic/prognostic study describes the use of cell-free transcriptomics, urine metabolomics, and plasma proteomics for identifying the biological measurements associated with preterm birth.



Meta-Analysis of Maternal and Fetal Transcriptomic Data Elucidates the Role of Adaptive and Innate Immunity in Preterm Birth

A cross-study meta-analysis identified a strong immune signature related to sPTB as well as several potential biomarkers that could be translated to clinical use.

Research agenda for preterm birth: recommendations from the March of Dimes.

dbPTB: a database for preterm birth

A novel bioinformatics approach to identify the nominal genetic variants associated with complex diseases and a web-based aggregation tool to organize the genes, genetic variations and pathways involved in preterm birth are developed.

Replication and refinement of a vaginal microbial signature of preterm birth in two racially distinct cohorts of US women

It is argued that the vaginal microbiota is better represented by the quantitative frequencies of these key taxa than by classifying communities into five community state types, and that previous conflicting results may reflect the different risk profile of women of black race.

Genetic Associations with Gestational Length and Spontaneous Preterm Birth

It is found that variants at the EBF1, EEFSEC, AGTR2, WNT4, ADCY5, and RAP2C loci were associated with gestational duration and variants atThe EBF 1, EE FSEC, and AG TR2 loci with preterm birth.

Implementing Mass Cytometry at the Bedside to Study the Immunological Basis of Human Diseases: Distinctive Immune Features in Patients with a History of Term or Preterm Birth

The results suggest that women predisposed to preterm birth may be prone to mount an exacerbated TLR4 response during the course of pregnancy, suggesting the power of single‐cell mass cytometry to detect biologically important differences in a relatively small patient cohort.

An Evolutionary Genomic Approach to Identify Genes Involved in Human Birth Timing

By considering human acceleration, a novel gene that may be associated with preterm birth, FSHR, is identified and other human accelerated genes will similarly beassociated with pre term birth risk and elucidate essential pathways for human parturition.

Risk of Spontaneous Preterm Birth is Associated With Common Proinflammatory Cytokine Polymorphisms

The results suggest that common genetic variants in proinflammatory cytokine genes could influence the risk for spontaneous preterm birth, and do not support an inflammatory etiology for small-for-gestational age (SGA).

A genome-wide association study identifies only two ancestry specific variants associated with spontaneous preterm birth

The fetal genetic contribution to PTB is unlikely due to single common genetic variant, but could be explained by interactions of multiple common variants, or of rare variants affected by environmental influences, all not detectable using a GWAS alone.