The Washington University School of Medicine in St. Louis has secured two significant grants to continue its role in the Human Pangenome Reference Sequencing Project. This project, launched in 2019, aims to broaden the diversity of human genome sequences used in the widely referenced human genome. By improving our understanding of genetic variation, the initiative hopes to uncover how genetics contribute to diseases and offer new possibilities for treatments.
The project is funded by the National Human Genome Research Institute (NHGRI) of the National Institutes of Health (NIH). Its goal is to create a reference genome that better represents human diversity across the globe. This will make the genome more useful to researchers and ensure that precision medicine can benefit all populations, regardless of genetic background.
Washington University’s McDonnell Genome Institute plays a central role in the project. The institution serves as the national coordinating center and also houses one of the genomic sequencing centers. The two grants, totaling $29 million nationwide, provide $14 million to WashU Medicine for its coordinating and sequencing efforts.
Ting Wang, PhD, the principal investigator of the project and head of the Department of Genetics at WashU Medicine, expressed enthusiasm about the next steps. “We are excited to continue expanding and diversifying the pangenome reference sequence, as well as developing and sharing new tools and resources. This project is a critical part of personalized medicine. It will ensure that human genome studies accurately reflect diversity, making precision treatments accessible to all.”
The original human genome reference, completed in 2002, was based on a limited number of individuals and mostly reflected the genetic sequence of one person. WashU Medicine’s McDonnell Genome Institute contributed 25% of the data used to map the human genome’s 3.1 billion DNA base pairs. While a significant achievement, this reference did not capture the full genetic diversity of the human population.
To address this gap, the first phase of the pangenome project included genomes from 350 individuals from various racial and ethnic groups. The second phase will expand this further by adding 200 additional genomes, bringing the total to 550 individuals. This increase in diversity is crucial for understanding genetic variations and their roles in health and disease.
The researchers emphasize the ethical, legal, and social implications of this genomic work. A dedicated team is focused on issues like informed consent, data privacy, and equitable access to the research resources. The aim is to ensure that the benefits of this work are accessible to all and that participants’ rights are safeguarded.
WashU Medicine leads a national collaboration with UC Santa Cruz and the European Molecular Biology Laboratory’s European Bioinformatics Institute to form the Human Pangenome Reference Consortium Coordination Center. A second center, led by UC Santa Cruz, focuses on genomic sequencing. It includes WashU’s McDonnell Genome Institute and the University of Washington.
This initiative is supported by the NIH under the grant numbers U41HG010972 and UM1HG010971. The views expressed in the research are those of the authors and do not necessarily reflect those of the NIH.
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