The EGP at five years.More than 100 scientists, public health professionals, and physicians gathered in Boston 7-9 June 2003 for a symposium, Genes, Environment, and Disease, that provided research updates on the NIEHS NIEHS National Institute of Environmental Health Sciences (NIH, DHHS) Environmental Genome Project genome project 1 The Human Genome Project, see there 2. A general term for a coordinated research initiative for mapping and sequencing the genome of any organism (EGP (1) (Exterior Gateway Protocol) A broad category of routing protocols that are designed to span different autonomous systems. Contrast with IGP.
(2) (Exterior Gateway P ) and its associated Comparative Mouse Genomics Centers Consortium (CMGCC). The EGP was initiated in 1998 with a dual goal: providing information on how individual genetic differences affect disease risk from environmental agents, and proposing appropriate environmental policies in response to that information. In embarking on that quest, the NIEHS divided the work into a number of subject areas ranging from the identification of variations in environmental response genes to the broad examination of the ethical, legal, and social implications of the findings of the EGP.
The symposium occurred only weeks after completion of Phase 1 of the EGP, which called for the resequencing of more than 200 environmentally responsive genes for the purpose of identifying single-nucleotide polymorphisms, or SNPs, that are important in determining disease susceptibility. The mission of Phase 2, which is currently under way and expected to extend to 2004, is to conduct functional analysis studies to characterize the SNP SNP Scottish National Party
Noun 1. SNP - (genetics) genetic variation in a DNA sequence that occurs when a single nucleotide in a genome is altered; SNPs are usually considered to be point mutations that have been evolutionarily variants discovered in Phase 1. Phase 3 of the EGP, now in its initial planning stages, will include the Molecular Epidemiology molecular epidemiology Molecular medicine An evolving field that combines the tools of standard epidemiology–case studies, questionnaires and monitoring of exposure to external factors with the tools of molecular biology–eg, restriction endonucleases, Program, in which population-based epidemiologic studies will be initiated to understand the role of gene variations in human genetic susceptibility.
Because animal models are an essential part of Phase 2, the NIEHS created the CMGCC, which consists of five universities. The consortium is charged with developing mouse models containing, among other SNPs, the human polymorphisms identified in Phase 1. The focus to date has been on modeling mice with variants in environmentally responsive cell cycle and DNA repair genes.
At the symposium, NIEHS deputy director Samuel Wilson said that "all of us at the [NIEHS] are very pleased" with the work done so far. But he also suggested that much work lies ahead and warned against succumbing to pressure brought by the public or the media, who may be anxious to see genetically based disease cures. "It's too easy to fall into the trap of 'tell me what it means next week,'" he said. "It's an ongoing activity we're talking about. We're not looking to an end point of five years or even fifty years." He emphasized the importance of sound polymorphic studies, because "otherwise we'll be doing superficial science."
Joan Packenham, the NIEHS program director for the CMGCC, and Kimberly Gray, a health science administrator with the institute's Susceptibility and Population Health Branch, presented overviews of various facets of the EGP. They were followed by CMGCC directors Raju Kucherlapati of Harvard Medical School Harvard Medical School (HMS) is one of the graduate schools of Harvard University. It is a prestigious American medical school located in the Longwood Medical Area of the Mission Hill neighborhood of Boston, Massachusetts. and Jan Vijg of the University of Texas Health Science Center at San Antonio UTHSCSA is the largest comprehensive health sciences university in South Texas. Located in the South Texas Medical Center, it serves San Antonio and all of the 50,000 square mile (130,000 km²) area of central and south Texas. , who described consortium accomplishments. For example, the CMGCC recently launched the Mouse Federated Database, an integrated bioinformatics tool that allows access to the biological data on CMGCC mouse models. Richard Sharp, an assistant professor of medicine at the Baylor College of Medicine Baylor College of Medicine is a private medical school located in Houston, Texas, USA on the grounds of the Texas Medical Center. It has been consistently rated the top medical school in Texas and among the best in the United States. , gave an introductory talk about the ethical, legal, and social implications of the EGP, discussing privacy issues arising from individual participation in research and protection of racial or ethnic groups in which certain genetic variants may be more common.
The balance of the agenda was devoted to presentations by researchers working on a variety of studies related to the scientific interests of the EGP. For example, Jeanne Manson, a research scientist in human genetics Human genetics
A discipline concerned with genetically determined resemblances and differences among human beings. Technological advances in the visualization of human chromosomes have shown that abnormalities of chromosome number or structure are surprisingly and molecular biology at the Children's Hospital of Philadelphia The Children's Hospital of Philadelphia is one of the largest and oldest children's hospitals in the world. "CHOP" has been ranked as the best children's hospital in the United States by U.S. News & World Report and Child Magazine in recent years. , described her work to identify and evaluate risk factors for hypospadias hypospadias /hy·po·spa·di·as/ (-spa´de-is) a developmental anomaly in which the urethra opens inferior to its normal location; usually seen in males, with the opening on the underside of the penis or on the perineum. (an abnormality of the urethral urethral
pertaining to or emanating from urethra.
urethral agenesis, urethral atresia
failure of development of all or part of the urethra: characterized by complete urine retention. A rare cause of neonatal uremia. opening on the penis) in 250 families to date. Among her findings, she said, are a relationship between hypospadias and exposure to pesticides, paints and stains, fuels, and solvents. Susan L. Lindquist, director of the Whitehead Institute for Biomedical Research in Cambridge, Massachusetts, reported on her research on prion prion (prī`ŏn), infectious agent thought to cause a group of diseases known as
prion diseases or transmissible spongiform encephalopathies. proteins in baker's yeast. Prions self-perpetuate by inducing other proteins to assume their same shape. The research, she said, has advanced understanding of mammalian prions, which cause spongiform encephalopathies that can spread through the environment.
Packenham said the symposium was intended to make the scientific community aware of research being conducted within the EGP and the consortium, and was organized specifically to bring together scientists from two different communities under the EGP: mouse modelers and epidemiologists.
One of those mouse modelers, David Johnson, director of the University of Texas M.D. Anderson Cancer Center Comparative Mouse Genomics Center in Smithville, agreed, pointing out that the utility of the two disciplines meeting with each other went beyond just mutual edification ed·i·fi·ca·tion
Intellectual, moral, or spiritual improvement; enlightenment.
Noun 1. edification - uplifting enlightenment
sophistication . "We could see where we could help each other," he said. "We [mouse people] needed help identifying which SNPs to model, for instance. And [the epidemiologists] were interested in what we've already found so they can identify the most promising SNPs to do association studies with."
He also noted that there are certain big-picture benefits to meeting with other scientists working within the broad EGP. "I got a much clearer picture of what the overall Environmental Genome Project is and how we fit in," he said. "I also got an idea about how much progress has been made."