From: Robert J. Bradbury (bradbury@aeiveos.com)
Date: Fri Jun 20 2003 - 19:27:55 MDT
Some may not know it, but the Human Genome was "officially"
declared complete in April. At that time Francis Collins,
the director of NHGRI (http://www.genome.gov), and several
other authors published a paper in Nature [1] discussing
the status of the work and future goals. In that paper
they outlines a list of 5 future goals.
I thought it might be useful for people to know what the
goals are:
1. the ability to determine a genotype at very low cost,
allowing an association study in which 2,000 individuals
could be screened with about 400,000 genetic markers for
$10,000 or less;
2. the ability to sequence DNA at costs that are lower by
four to five *orders of magnitude* than the current cost,
allowing a human genome to be sequenced for $1,000 or less;
3. the ability to synthesize long DNA molecules at high
accuracy for $0.01 per base allowing the synthesis of
gene-sized pieces of DNA of any sequence for between $10
and $10000;
4. the ability to determine the methylation status of all
the DNA in a single cell; and
5. the ability to monitor the state of all proteins in a
single cell in a single experiment.
#1 is very useful for identifying the genes involved in
various genetic diseases. #2 is useful for determining
what actual gene defects an individual has as well as
contributing to knowing how they might respond to specific
therapies. #3 is highly useful for developing gene based
therapies and reducing the costs of research. [Interestingly,
the Robiobotics business plan goes far beyond goal #3.]
#4 may have some interesting consequences in understanding
aspects of aging. #5 helps contribute to both basic
biological understanding as well as determining more
rapidly whether therapies are functioning as desired.
Robert
1. Collins, F. S., et al, "A vision for the future of
genomics research", Nature 422:835-847 (24 Apr 2003).
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