Assignment

Background

Developments in genetic research have forever altered history. Technologies and resources  promoted by the Human Genome Project have had profound impacts on biomedical research and promise to revolutionize biological research and clinical medicine. Researchers have determined that conditions such as fragile X syndrome, neurofibromatosis, Alzheimer's, inherited colon cancer, and familial breast  cancer, all were genetically encoded at life's conception. These diseases and conditions can be eradicated before they are able to take their toll, by replacing the defective genes

In 1994, an effort started to map the genomes of bacteria useful in energy production, environmental remediation, toxic waste reduction, and industrial processing. Information gleaned from the mapping of the bacterium gene has started to lead to the creation of organisms that could: metabolize toxic waste, bleach paper pulp, or remove lipstick from glassware. The sequencing done on microbes has also started to reveal the vulnerabilities of unwanted bacteria such as E. coli.

Risk assessment is another area in which genetic sequencing has had a great impact. Scientists know that genetic differences make some people more susceptible and others more resistant to toxic agents. Further exploration will lead to understanding the effects of low-level radiation, especially in terms of its cancer risk.

One area of genetics that has already received a great deal of media attention is DNA forensics. DNA identification has helped in identifying potential crime suspects, exonerate persons wrongly accused of crimes, identify crash victims, establish paternity, detect harmful organisms which may pollute the water or air, match organ donors with recipients, and authenticate consumables like wine.

Lastly, genetic research has lead to the development of disease resistant crops, healthier farm animals, biopesticides, and edible vaccines.

All of these developments have lead to a better quality of life for people on earth, and continued research only promises to make better and better breakthroughs are time goes on.

Timeline (See the Oak Ridge National Laboratory)

• 1983  LANL and LLNL begin production of DNA clone (cosmid) libraries representing single chromosomes.
• 1984 DOE OHER and ICPEMC cosponsor Alta, Utah, conference highlighting the growing role of recombinant DNA technologies. OTA incorporates Alta proceedings into report acknowledging value of human genome reference sequence
• 1985 Robert Sinsheimer holds meeting on human genome sequencing at University of California, Santa Cruz.
• 1985 At OHER, Charles DeLisi (*.pdf) and David A. Smith commission the first Santa Fe conference to assess the feasibility of a Human Genome Initiative.
• 1986 Following the Santa Fe conference, DOE OHER announces Human Genome Initiative. With $5.3 million, pilot projects begin at DOE national laboratories to develop critical resources and technologies.
• 1987 Congressionally chartered DOE advisory committee, HERAC, recommends a 15-year, multidisciplinary, scientific, and technological undertaking to map and sequence the human genome. DOE designates multidisciplinary human genome centers.
• 1987 NIH NIGMS begins funding of genome projects.
• 1988 Reports by congressional OTA and NAS NRC committees recommend concerted genome research program. 
• 1988 HUGO founded by scientists to coordinate efforts internationally.
• 1988 DOE and NIH sign MOU outlining plans for cooperation on genome research.
• 1988 First annual Cold Spring Harbor Laboratory meeting on human genome mapping and sequencing.
• 1988 Telomere (chromosome end) sequence having implications for aging and cancer research is identified at LANL.
• 1989 DNA STSs recommended to correlate diverse types of DNA clones.
• 1989 DOE and NIH establish Joint ELSI Working Group.
• 1990 DOE and NIH present joint 5-year U.S. HGP plan to Congress. The 15-year project formally begins.
• 1990 Projects begun to mark gene sites on chromosome maps as sites of mRNA expression.
• 1990 Research and development begun for efficient production of more stable, large-insert BACs.
• 1991 Human chromosome mapping data repository, here, established.
• 1992 Low-resolution genetic linkage map of entire human genome published.
• 1992 Guidelines for data release and resource sHaring announced by DOE and NIH.
• 1993 International IMAGE Consortium established to coordinate efficient mapping and sequencing of gene-representing cDNAs.
• 1993 DOE-NIH ELSI Working Group's Task Force on Genetic and Insurance Information releases recommendations.
• 1993 DOE and NIH revise 5-year goals [Science 262 , 43-46 (Oct. 1, 1993)].
• 1993 French Généthon provides mega-YACs to the genome community.
• 1993 IOM releases U.S. HGP-funded report, "Assessing Genetic Risks."
• 1993 LBNL implements novel transposon-mediated chromosome-sequencing system.
• 1993 GRAIL sequence-interpretation service provides Internet access at ORNL.
• 1994 Genetic-mapping 5-year goal achieved 1 year ahead of schedule.
• 1994 Completion of second-generation DNA clone libraries representing each human chromosome by LLNL and LBNL.
• 1994 Genetic Privacy Act, first U.S. HGP legislative product, proposed to regulate collection, analysis, storage, and use of DNA samples and genetic information obtained from them; endorsed by ELSI Working Group.
• 1994 DOE MGP launched; spin-off of HGP.
• 1994 LLNL chromosome paints commercialized.
• 1994 SBH technologies from ANL commercialized.
• 1994 DOE HGP Information Web site activated for public and researchers.
• 1995 LANL and LLNL announce high-resolution physical maps of chromosome 16 and chromosome 19, respectively.
• 1995 Moderate-resolution maps of chromosomes 3, 11, 12, and 22 maps published.
• 1995 Physical map with over 15,000 STS markers published.
• 1995 First (nonviral) whole genome sequenced (for the bacterium Haemophilus influenzae).
• 1995 Sequence of smallest bacterium, Mycoplasma genitalium, completed; provides a model of the minimum number of genes needed for independent existence.
• 1995 EEOC guidelines extend ADA employment protection to cover discrimination based on genetic information related to illness, disease, or other conditions.
• 1996 Methanococcus jannaschii genome sequenced; confirms existence of third major branch of life on earth.
• 1996 DOE initiates 6 pilot projects on BAC end sequencing.
• 1996 Health Care Portability and Accountability Act prohibits use of genetic information in certain health-insurance eligibility decisions, requires DHHS to enforce health-information privacy provisions.
• 1996 HGP Participants Agreen on Sequencing Data Release Policies Bermuda Conference I
• 1996 DOE and NCHGR issue guidelines on use of human subjects for large-scale sequencing projects.
• 1996 Saccharomyces cerevisiae (yeast) genome sequence completed by international consortium.
• 1996 Sequence of the human T-cell receptor region completed.
• 1996 Wellcome Trust sponsors large-scale sequencing strategy meeting for international coordination of human genome sequencing.
• 1997 NIH NCHGR becomes National Human Genome Research Institute (NHGRI).
• 1997 Escherichia coli genome sequence completed.
• 1997 Second large-scale sequencing strategy meeting held in Bermuda. (see also summary )
• 1997 High-resolution physical maps of chromosomes X and 7 completed.
• 1997 DOE-NIH Task Force on Genetic Testing releases final report and recommendations.
• 1997 DOE forms Joint Genome Institute for implementing high-throughput activities at DOE human genome centers, initially in sequencing and functional genomics.
• 1997 UNESCO adopts Universal Declaration on the Human Genome and Human Rights
• 1998 Hospital for Sick Children, Toronto, Ontario, to continue GDB data collection, curation.
• 1998 Caenorhabditis elegans genome sequence completed.
• 1998 DOE and NIH reveal new five-year plan for HGP, predict project completion by 2003.
• 1998 JGI exceeds sequencing goal, achieves 20 Mb for FY 1998.
• 1998 GeneMap'98 containing 30,000 markers released.
• 1998 Incyte Pharmaceuticals announces plans to sequence human genome in 2 years.
• 1998 Mycobacterium tuberculosis bacterium sequenced.
• 1998 Celera Genomics formed to sequence much of human genome in 3 years using HGP-generated resources.
• 1998 DOE funds production BAC end sequencing projects
• 1998 Largest-ever ELSI meeting attended by over 800 from diverse disciplines and sponsored by DOE; Whitehead Institute; and the American Society of Law, Medicine, and Ethics.
• 1998 Human Genome Project passes midpoint.
• 1999 First Human Chromosome Completely Sequenced! On December 1, researchers in the Human Genome Project announced the complete sequencing of the DNA making up human chromosome 22.
• 1999 Joint Genome Institute sequencing facility opens in Walnut Creek, CA.
• 1999 Major Drug Firms Create Public SNP Consortium
• 1999 The Billion Base Pair Celebration November 23, 1999. Bruce Alberts, President, National Academy of Sciences and early planner of the Genome Project; Francis Collins, Director, NHGRI; Secretary of HHS, Donna Shalala; Secretary of DOE, Bill Richardson. (Total Running Time: 01:09:45; Bandwidth: 146 Kbps)
• 1999 HGP advances goal for obtaining a draft sequence of the entire human genome from 2001 to 2000.
• 2000 International research consortium publishes chromosome 21 genome, the smallest human chromosome and the fifth to be completed.
• 2000 DOE researchers announce completion of chromosomes 5, 16, and 19 draft sequence.
• 2000 International collaborators publish genome of fruit fly Drosophila melanogaster, the largest organism sequenced to date.
• 2001 Publication of Initial Working Draft Sequence February 12, 2001

Special issues of Science (Feb. 16, 2001) and Nature (Feb. 15, 2001) contain the working draft of the human genome sequence. Nature papers include initial analysis of the descriptions of the sequence generated by the publicly sponsored Human Genome Project, while Science publications focus on the draft sequence reported by the private company, Celera Genomics. A press conference was held at 10 a.m., Monday, February 12, 2001, to discuss the landmark publications. Links for more information are:  Science; Human Genome Project and the Private Sector: A Working Partnership; Press releases on First Analysis of Genome Sequence

WWW Sites

Human Genome Project Information - news, FAQs, topical fact sheets, progress reports, and more, for students and scientists. 
Advanced Lifescience Information System - Japan Science and Technology Corporation - human genome sequencing project data available online.
Cancer Genome ANatomy Project (CGAP) - interdisciplinary program to establish the information and technological tools needed to decipher the molecular aNatomy of a cancer cell.
Genome Sciences Department - Lawrence Berkeley National Laboratory - identifies genes and determines their functions in the context of biology and human disease through computation, expression array, mapping, bio-imaging, and bio-instrumentation.
Généthon - human genome research centre.
Human Chromosome 22 - information about the second smallest human autosome and how its sequence was determined.
Human Genome Organisation (HUGO) - international organisation of scientists involved in the Human Genome Project.
Human Genome Program - U.S. Department of Energy - includes research projects at universities, DOE genome centers, DOE-owned national laboratories, and other research organizations.
Human Genome Resources - includes genome maps, sequencing progress, and data on genetic variation and gene expression.
Human Genome Sequencing Center - Baylor College of Medicine
Model Ethical Protocol for Collecting DNA Samples - a guide to the ethical issues that will be encountered in collecting samples from human populations for the Human Genome Diversity Project.
National Human Genome Research Institute (NHGRI) - National Institutes of Health - funds research in chromosome mapping, DNA sequencing, database development, technology development for genome research, and studies of the ethical, legal, and social implications of genetics research.
New Scientist: Human Genome Special - a series of articles examines the project and explores the new world that the human genome will bring.
Stanford Human Genome Center - primary research goals of the center are the construction of high resolution radiation hybrid maps of the human genome and the sequencing of large, contiguous genomic regions.
FAQ - Human Genome Diversity Project - the HGD Project is an international project that seeks to understand the diversity and unity of the entire human species.
Human Genome Project official information page
The Sanger Institute public information pages have general and detailed primers on DNA, genes and genomes, the Human Genome Project and science spotlights.
Cracking the Code of Life is the companion website to the NOVA program documenting the race to decode the genome.
The Genographic Project by National Geographic
The Human Genome Project: A Scientific and Ethical Overview by Marion L. Carroll and Jay Ciaffa
The Human Genome Project: Then and Now (New York Times)
Human Genome at Ten: 5 Breakthroughs, 5 Predictions

Recommended Books

A simple guide to genetics is the book by Larry Gonick, Mark Wheelis, The Cartoon Guide to Genetics (1991). For a reference guide approach, try Tom Strachan, Andrew Read, Human Molecular Genetics (1999). Another no-nonsense approach can be found in Matt Ridley, Genome (2000).

Recommended Publications

• To Know Ourselves (1996), an overview of the underlying science of the Human Genome Project; also available in Adobe Acrobat format.
• Your Genes, Your Choices (*.pdf, 1999), a booklet describing the Human Genome Project, the science behind it, and the ethical, legal, and social issues that are raised by the project. Also mirrored on this site.
• Human Genome Landmarks: Selected Traits and Disorders Mapped to Chromosomes (2001) Educational Wall poster of all 24 human chromosomes and different genes that have been mapped to them. Print and online versions available from Web site.
• The New Genetics™: Medicine and the Human Genome (2001) is a multimedia CD-ROM for those interested in the impact of genetics and genomics on healthcare and society. It is appropriate for non-physician health professionals, medical students, human genetics students, biotechnology trainees, policymakers, and interested members of the public with a foundation in biology.
• 2000 DOE Human Genome Program Contractor-Grantee Workshop VIII research abstracts from the latest Contractor Grantee Meeting. See archives listing at the bottom of this page for previous workshop reports.
• Retrospective of the DOE Ethical, Legal, and Social Issues Program (1990-2000): a history of the program, including specific ELSI grants and their products.
• A Vital Legacy (1997)-- a 50-year progress report on the revolutionary program that gave rise to the Human Genome Project. Available in PDF only.

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