$14 million supports work to diversify human genome research

(Press-News.org) Washington University School of Medicine in St. Louis has received two large grants renewing funding for the Human Pangenome Reference Sequencing Project. This ambitious program began in 2019 with the goal of increasing the diversity of human genome sequences that are pooled into the widely used reference genome. A thorough representation of human genetic diversity can help researchers discover how genetic variation contributes to disease and perhaps offer new routes to innovative treatments.

Funded by the National Human Genome Research Institute (NHGRI) of the National Institutes of Health (NIH), the project aims to accurately reflect the full range of human diversity worldwide, make the reference genome more useful to researchers and ensure that all people — regardless of their genetic ancestry — can benefit from the promise of precision medicine.

WashU Medicine serves as the national coordinating center for the entire project and houses one of the data production centers performing genomic sequencing. Nationally, the two grants total $29 million, and, of that, WashU Medicine will receive about $14 million to fund its coordinating and sequencing centers.

“We are excited to continue this work expanding and diversifying the pangenome reference sequence, as well as building and disseminating the new tools and resources,” said principal investigator Ting Wang, PhD, the Sanford C. and Karen P. Loewentheil Distinguished Professor of Medicine and head of the Department of Genetics at WashU Medicine. “Human genomics is a cornerstone of personalized medicine. This project will help ensure that the human genomes we study accurately reflect human diversity so that newly developed precision treatments have the potential to benefit everyone.”

Human Genome Project’s origins at WashU The original human genome reference sequence, completed in 2002, was based on the genomes of a small number of volunteers. And in most portions of that first reference genome, the sequence was from a single person.

WashU Medicine’s McDonnell Genome Institute played a major role in the original Human Genome Project that produced the first reference sequence. The institute contributed 25% of the genetic data to identify all 3.1 billion base pairs of DNA that make up the human genome. While a massive milestone in the history of human genome research, the original reference genome reflected a tiny fraction of the scope of human diversity.

To widen this view, the first phase of the pangenome reference project added genomes from 350 people of different racial and ethnic backgrounds to the reference data. Now, the second phase will add genomes from an additional 200 individuals, increasing the total number to 550 individuals of diverse backgrounds. All the data and tools developed by the researchers are made available as resources to the broader scientific community.

The investigators emphasize the importance of considering the ethical, legal and social implications of genomic research. The project includes a team of researchers dedicated to addressing these issues, including attention to informed consent for participating in research, understanding how the data are used and protected and ensuring that these resources are equitably accessible.

For the national coordinating center, WashU Medicine leads a collaboration with UC Santa Cruz and the European Molecular Biology Laboratory’s European Bioinformatics Institute to form the Human Pangenome Reference Consortium Coordination Center. The second center, focused on sequencing — the Center for Human Genome Reference Diversity— is led by UC Santa Cruz and comprises the McDonnell Genome Institute at WashU and the University of Washington.

This work is supported by the National Human Genome Research Institute (NHGRI) of the National Institutes of Health (NIH), under grant numbers U41HG010972 and UM1HG010971. This content is solely the responsibility of the authors and does not necessarily represent the views of the NIH.

About Washington University School of Medicine

WashU Medicine is a global leader in academic medicine, including biomedical research, patient care and educational programs with 2,900 faculty. Its National Institutes of Health (NIH) research funding portfolio is the second largest among U.S. medical schools and has grown 56% in the last seven years. Together with institutional investment, WashU Medicine commits well over $1 billion annually to basic and clinical research innovation and training. Its faculty practice is consistently within the top five in the country, with more than 1,900 faculty physicians practicing at 130 locations and who are also the medical staffs of Barnes-Jewish and St. Louis Children’s hospitals of BJC HealthCare. WashU Medicine has a storied history in MD/PhD training, recently dedicated $100 million to scholarships and curriculum renewal for its medical students, and is home to top-notch training programs in every medical subspecialty as well as physical therapy, occupational therapy, and audiology and communications sciences.

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