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Scientists are close to completing
the genetic blueprint for a human
being, thanks in large part to Office
of Science funding. DOE was the first
federal agency to propose that the
human genome could be sequenced, and
it launched the Human Genome Project
in 1986. Today, DOE's Joint Genome
Institute (a consortium of three laboratories)
is one of the 16 institutions that
constitute the Human Genome Sequencing
Consortium, which recently announced
completion of a working draft of the
human genome. About one-fourth of
the chemical sequence was finished
and another half was in near-finished
form or better. Contributing to that
achievement was the JGI's completion
of high-quality draft sequences of
chromosomes 5, 16, and 19, which together
contain some 12,000 genes, including
those implicated in forms of kidney
disease, prostate and colorectal cancer,
leukemia, hypertension, diabetes,
and atherosclerosis. The JGI's DNA
Production Genomics Facility is one
of the most productive and cost-effective
public-sector DNA sequencing laboratories
in the world.
Scientific Impact:
The large-scale sequencing work will
provide a framework for efficiently
answering many questions in biology,
such as the number of human genes,
recently estimated to be much lower
(30,000) than previously thought (100,000).
The JGI aims to develop and use new
sequencing and computational technologies
with the goal of discovering and characterizing
the basic principles and relationships
underlying living systems.
Social Impact: Armed
with the DNA sequence of the human
genome, scientists will be able to
identify more genes responsible for
countless diseases and develop diagnostic
and treatment approaches. Genomic
studies also should answer profound
questions, such as why some people
are able to defend themselves against
the AIDS virus and others are not.
Reference: "Initial
sequencing and analysis of the human
genome. The Genome International Sequencing
Consortium." Nature 409,
860-921 (15 February 2001).
URL:
http://www.ornl.gov/TechResources/Human_Genome/home.html
Technical Contact:
Dr. Ari Patrinos, Office of Biological
and Environmental Research, 301-903-3251
Press Contact: Jeff
Sherwood, DOE Office of Public Affairs,
202-586-5806
SC-Funding Office:
Office of Biological and Environmental
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