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The Preterm Birth Genome Project

The Preterm Birth Genome Project (PGP) was established in 2007, and is a multinational research project combining the knowledge of clinicians, scientists and clinical academics from Europe, Australia, North America, South America, Africa and Asia. The Project is coordinated by the World Health Organisation, and is supported by The University of Western Australia, The University of Toronto, The University of Texas Medical Branch, University of Vanderbilt and other leading universities. The Project has received funding from the Australian Federal Government (in excess of AUD1.2M), Government of Mexico, March of Dimes, the World Health Organisation, and philanthropic organisations. The PGP team have developed and implemented guidelines for conducting genetic epidemiology studies into preterm birth; as part of this, optimal and minimum phenotypic dataset requirements have been identified. (Pennell, C. E., B. Jacobsson, et al. (2007). "Genetic epidemiologic studies of preterm birth: guidelines for research." Am J Obstet Gynecol 196(2): 107-118.)

The Preterm Birth Genome project is comprised of five key phases:

Phase I of the project is complete, and has successfully identified the optimal sample type, collection methods and sample transport protocols, and confirmed that the multinational consortium can work together effectively. The results of Phase I have been published in the Journal of Perinatal Medicine (Pennell, C. E., F. Vadillo-Ortega, et al. (2012). "Preterm Birth Genome Project (PGP) - validation of resources for preterm birth genome-wide studies." J Perinat Med.)

Phase II of the Project is complete, and the manuscript is under preparation

Phase III aims to investigate the genetics of preterm birth in a global context. In this phase, 1000 cases and 1000 controls from six distinct populations will be analysed; Caucasian, Indian, Hispanic, African, African-American and Han Chinese. Funding has been obtained from the Australian Government to fund the collection and genotyping of 1000 cases and 1000 controls. The World Health Organisation and March of Dimes are also providing financial support for Phase Three.

The Prebic 'Omics' Research Group

A review was conducted by members of the PREBIC ‘omics’ research group into the development of an integrated systems biology approach to the study of preterm birth using “-omic” [please link to paper] technology with a view to creating a guideline for research. ‘Omics’ refers to the host of new technologies including genomics, transcriptomics, proteomics, and metabolomics now commonly employed in research into preterm birth. This project addressed the issues of:

  1. Integrated “-omics” approaches
  2. Phenotyping
  3. Sample collection
  4. Data management-integrative databases
  5. International consortia
  6. Translational feasibility

As the evidence for a genetic contribution to preterm birth increases, so does the need to explore genomics, transcriptomics, proteomics and metabolomics in obstetric and perinatal research.

Guidelines for Genetic Epidemiology Studies in Peterm Birth

Over the last decade, it has become increasingly apparent that the cause of preterm birth is multifactorial, involving both genetic and environmental factors. With the development of new technologies capable of probing the genome, exciting possibilities now present themselves to gain new insight into the mechanisms leading to preterm birth. This review, conducted by PREBIC members, developed research guidelines for the conduct of genetic epidemiology studies of preterm birth with the expectation that this will ultimately facilitate the comparison of data sets between study cohorts, both nationally and internationally. Specifically, the 4 areas addressed in this review includes: (1) phenotypic criteria, (2) study design, (3) considerations in the selection of control populations, and (4) candidate gene selection. This article is the product of discussions initiated by the authors at the 3rd International Workshop on Biomarkers and Preterm Birth held at the University of California, Los Angeles, CA, in March 2005

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