The J. Craig Venter Institute, The University of Washington, and The Johns Hopkins University Initiate Resequencing and Genotyping Projects to Help Identify Critical Disease Pathways

Research is Part of the National Heart, Lung, and Blood Institute's Complimentary Resequencing and Genotyping Program

ROCKVILLE, MD — February 6, 2006 — Scientists from the J. Craig Venter Institute, the University of Washington, Seattle, and The Johns Hopkins University have initiated resequencing and genotyping research on five projects selected by the National Institutes of Health's National Heart, Lung, and Blood Institute (NHLBI), as part of the NHLBI's Resequencing and Genotyping Service (RS&G). The RS&G program was established to enable researchers to more rapidly identify disease pathways of heart, lung, and blood diseases, as well as sleep disorders, ultimately enabling discovery of targeted therapeutics.

"Making advanced high-throughput genomics technologies accessible to researchers will rapidly advance studies by uncovering biological mechanisms, which will ultimately lead to new intervention and prevention strategies of these complex diseases," said Samuel Levy, Ph.D., principal investigator at the J. Craig Venter Institute.

Launched in October 2004, RS&G awards complimentary resequencing and genotyping services to principal investigators currently conducting studies to determine the genetic cause, outcome, or progression of cardiovascular or respiratory diseases or sleep disorders. Five projects to date have been selected by NHLBI for which Venter Institute and the University of Washington, Seattle are conducting resequencing. Leveraging high-throughput resequencing capabilities, genes and genic regions are being resequenced using a PCR-based strategy for the amplification of genomic DNA, followed by capillary-based dye-terminator sequencing. The Johns Hopkins University is performing genotyping analysis primarily through the use of its high-throughput Illumina BeadLab system within the Genetic Resources Core Facility of the McKusick-Nathans Institute of Genetic Medicine.

"NHLBI's RS&G program has already enabled identification of 344 SNPs in cardiac tissue from my lab's samples, of which more than 70 percent of the SNPs are novel, when compared to existing SNPs," noted award recipient Dan Roden, MD, professor of medicine and pharmacology at Vanderbilt University School of Medicine. "This program is truly providing researchers who could otherwise not afford resequencing and genotyping the opportunity to understand how DNA variants will contribute to disease states."

Gail Jarvik, professor of medicine at the University of Washington Medical Center, was awarded one of the first five projects to determine the role of genes involved in the immune system in heart disease and stroke. She noted, "The ability to compete for the highest quality of genetic support is an important new mechanism for rapidly moving promising research forward."

"NHLBI's first five projects are focused on genetic analysis of diseases, including chronic obstructive pulmonary disease (COPD), cardiac arrhythmias, iron deficiency, visceral adiposity, and carotid artery disease," commented Debbie Nickerson, Ph.D., p rofessor of Genome Sciences at the University of Washington.

Alan Scott, Ph.D., director of Genetics Resources Core Facility at The Johns Hopkins University noted, "We hope that the success of these initial projects will encourage other principal investigators who don't currently have access to or cannot afford resequencing and genotyping services to take advantage of this program."

About NHLBI's RS&G Program

The RS&G program is a five year project (2004-2009) with review cycles twice a year with deadlines in November and May. For selected projects, there is no cost for the resequencing and genotyping and all data are sent directly by the centers to the Principal Investigators. Principal Investigators are encouraged to submit projects for inclusion in this multiyear program. Investigators interested in submitting proposals to the program are encouraged to learn more about the opportunity and about access to the RS&G services by contacting Dr. Deborah Applebaum-Bowden at [email protected].

About The J. Craig Venter Institute

The J. Craig Venter Institute is a not-for-profit research institute dedicated to the advancement of the science of genomics; the understanding of its implications for society; and communication of those results to the scientific community, the public, and policymakers. Founded by J. Craig Venter, Ph.D., the Institute is home to approximately 200 staff and scientists with expertise in human and evolutionary biology, genetics, bioinformatics/informatics, information technology, high-throughput DNA sequencing, genomic and environmental policy research, and public education in science and science policy. The J. Craig Venter Institute is a 501(c)(3) organization. 

About UW Medicine, Seattle

UW Medicine is composed of the School of Medicine, Harborview Medical Center, UW Medical Center, UW Medicine Neighborhood Clinics, and UW Physicians. It has membership interests in the Seattle Cancer Care Alliance and Children 's University Medical Group. UW Medicine has major academic and service affiliations with Children 's Hospital and Regional Medical Center, the Fred Hutchinson Cancer Research Center, and the Veterans Affairs medical centers in Seattle and Boise. Consistently among the top five recipients of federal funding for biomedical research, the School of Medicine has more than 4,500 volunteer clinical faculty in Washington, Wyoming, Alaska, Montana, and Idaho and 1,700 regular faculty in Seattle. Among them are five Nobel Laureates, 30 members of the National Academy of Sciences, and 28 members of the Institute of Medicine. UW Medical Center ranks among the nation 's top 10 hospitals. For more information about UW Medicine, visit http://www.uwmedicine.org/.

About the McKusick-Nathans Institute at Johns Hopkins University School of Medicine

The McKusick-Nathans Institute of Genetic Medicine is the central focus of research, teaching and patient care in genetics at JHU. It provides national and international leadership in genetic medicine. The aims of the Institute are to create knowledge in genetics and to use that knowledge to treat and prevent disease. The Genetic Resources Core Facility is a service center within the Institute which provides access to materials, expertise, equipment and services that advance the research of investigators at JHU and beyond.

Media Contacts

Clare Hagerty
University of Washington, Seattle
206-685-1323
[email protected]

David March
Johns Hopkins University
[email protected]

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