UCSD-TCAG collaboration to focus on transformation of genome-based knowledge into health benefits

Rockville 25 September 2003The University of California, San Diego (UCSD) and The Center for the Advancement of Genomics (TCAG) have entered a formal collaboration in genomic medicine that combines large-scale human genome analysis with innovative medical research. Through this new collaboration, the two organisations will conduct genomic studies aimed at elucidating the links between multi-gene associations and the prediction and outcome of disease, with the goal of moving patient treatment closer to personalized drug therapy geared to an individual's genetic make-up.


Palmer Taylor, Ph.D., dean of the UCSD School of Pharmacy and Pharmaceutical Sciences, and J. Craig Venter, Ph.D., president of TCAG, announced the agreement at groundbreaking ceremonies for the new UCSD School of Pharmacy and Pharmaceutical Sciences building on the UCSD campus in La Jolla. "We are pleased to be working with UCSD as this collaboration unites the high-throughput DNA sequencing and analysis prowess of our scientists at the J. Craig Venter Science Foundation Joint Technology Center (JTC) with the internationally renowned clinical researchers at UCSD", Craig Venter stated.

"Craig Venter is a pioneer in genome sequencing and analysis who brings us polymorphism discovery and characterization on a scale that enables the investigation of the genetic basis of complex disease and therapeutic response traits in large populations", Palmer Taylor stated. "This partnership brings together unique resources from both groups. TCAG will have access to a well characterized patient base with defined phenotypes, while UCSD benefits from unparalleled genomic analysis and sequencing capabilities."

Under a multi-year Memorandum of Understanding (MOU), which outlines the details of the agreement, TCAG and UCSD will begin their collaboration focusing on hypertension and cardiovascular disease. According to the United States Centers for Disease Control and Prevention (CDC), cardiovascular disease is the number one cause of death in the United States, and there are approximately 61 million people living with some form of the disease. Clearly, there is an unmet medical need that both groups hope to address through the application of genomics technology.

The hypertension study is part of an emerging field of individualized medicine or "pharmacogenomics", where treatment moves beyond the "one-size-fits-all" approach to drug therapy and allows the development of individualized treatment plans based on genetic profiles. Using genetic indicators, physicians and pharmacists can determine in advance which drugs will work best for specific individuals and which are more likely to cause harmful side effects, and prescribe the most effective therapies.

While most humans share 99,9 percent of the same genetic sequence, scientists are discovering differences located within the genome, the DNA or hereditary material, in cells throughout the body. It's these differences that are the focus of the UCSD-TCAG partnership. "The agreement provides an exciting opportunity to apply the power of genomics systematically to the practice of medicine and therapeutics", Palmer Taylor stated. "Combining sequence information coming from targeted genes with clinical phenotypes, we should be able to identify the most appropriate therapy for specific individuals."

Craig Venter added: "We envision a world in the near future where genomics becomes a common weapon in the physician and individual's arsenal against disease. Through collaborations like this one and others that TCAG is involved in, we hope to move the timetable forward the genomic revolution to enhance all of our lives." In the hypertension study, UCSD obtains DNA from a large group of patients, and sends it to TCAG for sequencing, which is a process for determining the precise order within a gene of the various nucleotides, or basic molecular components of DNA.

Sequencing is applied to a jointly pre-selected set of genes in which polymorphisms may be linked to certain phenotypes. UCSD researchers simultaneously run tests to determine phenotypic information, specific physical characteristics and medical measurements, for each patient. Included are measurements of blood pressure, blood flow, release of adrenaline, vascular reactivity and various tests measuring patient responses to drugs and drug doses. The polymorphism data from the sequenced DNA will then be analysed in conjunction with the phenotypic information using information technology-enabled approaches that compare genetic variations to disease characteristics and drug responses.

Under the direction of Daniel O'Connor, M.D., UCSD professor of medicine, the hypertension study began two years ago with a $2,9 million, four-year grant from the National Heart, Lung and Blood Institute as part of the NIH Pharmacogenomics network co-ordinated by the National Institute of General Medical Sciences. Noting that UCSD is excited to be working with TCAG, Daniel O'Connor stated: "In this genome era, it is vitally important to have the power of a genome centre that brings state-of-the-art technology to large scale sequencing. On top of that, TCAG's informatics and information technology capabilities are truly differentiating. We are delighted to be working with Craig and his team."

Thus far in the project, UCSD researchers have drawn DNA from 2000 individuals and expect to collect another 500 samples over the next year. Preliminary results from these studies will be announced next month at the annual meeting of the Society for Human Genetics in San Francisco. Initial goals of the UCSD/TCAG genomic-based medicine collaboration are:

  • To integrate high-throughput DNA sequencing technologies and state-of-the-art analysis with distinctive medical expertise by re-sequencing and genotyping the relevant genetic material, genes and regulatory regions, of selected patients who are being studied by UCSD physicians. By sequencing the DNA of this patient population and associating these profiles with phenotype and disease outcomes, TCAG and UCSD researchers plan to correlate genetic variations to disease states to be able to initiate preventive steps or earlier treatment of disease.
  • To focus initially on major disease areas, including cardiovascular disorders, infectious diseases, and obesity-related illnesses.
  • To leverage the unique high-end computing centre that TCAG has as part of its Joint Technology Center, a next generation, high-throughput DNA sequencing centre. Currently, the Center has the capacity to sequence 45 billion base pairs of DNA per year.

The Center for the Advancement of Genomics (TCAG) is a not-for-profit policy and research centre dedicated to advancing science and medicine through education and enlightenment of the general public, elected officials, and students. TCAG will seek to better understand evolutionary issues, broad social and ethical issues such as race as a social concept rather than a scientific one, and combating genetic discrimination. TCAG will also focus on the public issues associated with biology and genomics in mitigating greenhouse gas concentrations and biological energy production.

The UCSD School of Pharmacy and Pharmaceutical Sciences is an integral part of the robust academic and research environment of the UCSD Health Sciences, which also includes the UCSD School of Medicine and UCSD Healthcare. UCSD also serves as an engine for pharmaceutical and biotechnology development in the region. Academic and research programmes within the School of Pharmacy and Pharmaceutical Sciences emphasize the post-genomic era of drug development, including research into specialized medications tailored to individual needs. Surrounding the UCSD campus are numerous research and development companies devoted to biotechnology and pharmaceutical development, including more than 150 developed by or with UCSD faculty.

Leslie Versweyveld

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