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Genomics - Page 4

Genomic Research Projects

Various groups and organizations are coming together to use new genomic information to assist them in their research endeavors. We have listed several below to serve as examples of where the research is taking us.

1) National Human Genome Research Institute (NHGRI):

The NHGRI led the Human Genome Project for the National Institutes of Health, culminating in the completion of the full human genome sequence in April 2003. Today, NHGRI moves forward into the genomic era with research aimed at improving human health and fighting disease.

Components of the Institute:


A. Genetics and Genomics for Health Professionals

B. Genome-wide association studies

C. Genetics and Genomics for Patients and the Public

D. An Ethical, Legal and Social Implications (ELSI) program

For more information on any of these four endeavors, go to:

Image from the Genetics & Genomics for Health Professionals
section of the website

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2) The Human Genome Project (HGP)

The Human Genome Project was an international research effort to determine the sequence of the human genome and identify the genes that it contains. The Project was coordinated by the National Institutes of Health and the U.S. Department of Energy.

Completed in April 2003, the HGP gave us the ability to, for the first time, to read nature's complete genetic blueprint for building a human being. As researchers learn more about the functions of genes and proteins, this knowledge will have a major impact in the fields of medicine, biotechnology, and the life sciences.

  • Identify all the genes in human DNA
  • Determine the sequences of the 3 billion chemical base pairs that make up human DNA
  • Store this information in databases
  • Improve tools for data analysis
  • Transfer related technologies to the private sector
  • Address the ethical, legal, and social issues (ELSI) that may arise from the project.
Image courtesy of the
National Institute of Health Human Genome Project

The DNA sequence used is not that of one person, but is a composite derived from many individuals. Therefore, it is a "representative" generic sequence

3) NCI Office of Cancer Genomics (OCG):

The mission of the NCI's Office of Cancer Genomics (OCG) is to enhance understanding of the molecular mechanisms of cancer, with the ultimate goal of improving the prevention, early detection, diagnosis, and treatment of cancer. Created in 1996, the OCG allows genomic data and cancer researchers to connect through the establishment of information platforms, material resources, and technology infrastructure. For more information on this program go to:

4) The international HapMap project: Genetic variations - SNPs

The International HapMap Project is a partnership of scientists and funding agencies from Canada, China, Japan, Nigeria, the United Kingdom and the United States to identify common genetic variations among people.


The HapMap (short for "haplotype map") is a catalog of common genetic variants called single nucleotide polymorphisms or SNPs (pronounced "snips").

Image Courtesy of the HapMap Project

The main goal of the International HapMap Project is to describe common patterns of human genetic variation that are involved in human health and disease. Additionally, data from the project will help researchers find genetic differences that can help predict an individual's response to particular medicines or environmental factors (such as toxins.)

For more information on HapMap go to:

5) The Cancer Genome Atlas Pilot Project (TCGA):

The Cancer Genome Atlas (TCGA) is a comprehensive and coordinated effort to accelerate our understanding of the molecular basis of cancer through the application of genome analysis technologies, including large-scale genome sequencing.


For more information on this topic go to:

Image Courtesy of the National Cancer Institute

Genomic Clinical Projects

Virtually every human ailment, except perhaps trauma, has some basis in our genes. Until recently, doctors were able to take the study of genes, or genetics, into consideration only in cases of birth defects and a limited set of other diseases.

With the vast trove of data about human DNA generated by the Human Genome Project and the HapMap Project, scientists and clinicians have much more powerful tools to study the role that genetic factors play in cancer.

Genome-based research is already enabling medical researchers to develop more effective diagnostic tools, better understand the health needs of people based on their individual genetic make-ups, and design new treatments for disease. Thus, the role of genetics in health care is starting to change profoundly and the first examples of the era of personalized medicine are on the horizon.

Below are examples of several efforts now underway:

1. The Office of Public Health Genomics (OPHG)

The Centers for Disease Control and Prevention (CDC), the nation's primary disease prevention agency, established the National Office of Public Health Genomics (OPHG).

Currently, they provide national public health leadership and build partnerships with other federal agencies, as well as public health organizations, professional groups, and the private sector around genomic issues.

Specifically, OPHG promotes the integration of genomics into public health research, policy, and practice in order to improve the lives and health of all people.

Public Health Genomics is an emerging field that assesses the impact of genes and their interaction with behavior, diet and the environment on population health. The CDC, along with the NIH, are at the forefront of this field.

For more information on OPHG go to:

2. GAPPNET: A New Genomics Translation Initiative

The Genomic Applications in Practice and Prevention Network (GAPPNet) is a collaborative initiative involving partners from across the public health sector who are working together to realize the promise of genomics in healthcare and disease prevention.

GAPPNet aims to accelerate and streamline effective and responsible use of validated and useful genomic knowledge and applications, such as genetic tests, technologies, and family history, into clinical and public health practice.

To find out more about this project, go to:

CISN Summary on Genomic Research

Genomic research attempts to answer the following questions:

  • What mutations make people susceptible to cancer?
    • Germ line mutations (inherited and present in all cells of the body and in familiar cancers)
    • Somatic mutations (errors that occur in during a lifetime and occur in single cells of a specific organ)
  • Which genes are over or under-expressed (more or less active) in cancer cells?
  • Which genes are over or under amplified (more or fewer copies) in cancer cells?
  • Which genetic signatures (patterns of genes change) are prognostic (indicate longer or shorter survival)?
  • Which genetic signatures are predictive of benefit of specific therapies?



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