Assignment
How have developments in genetics, especially the
Human Genome Project, affected society in the last fifty years?
Background
DNA is an organic chemical found in
cells that codes genetic information for the transmission of
inherited traits. The structure of DNA was discovered in 1953 by
James Watson and Francis Crick.
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
- 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, GDB,
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; Nature; 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
In silico Biology: Sequence & Structure & Function -
bioinformatics conference to address fundamental questions raised
by the progress of the Human Genome Project. November 11-14,
1999; Atlanta, Georgia.
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
Genetics: The Human Genome Project (New York Times topic index)
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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