arent generally considered model organisms, recent advances
in robotic sequencing and DNA microarray
technology make it easier to carry out genetic studies on individual
human beings. For instance, with these tools, we can now compare
the genetic differences between healthy and cancerous human cells.
And used in combination with the recently completed human genome,
these tools allow researchers to study genetic variation in the
human population and tease out the factors that contribute to normal
variation and disease susceptibility.
comparing human genomes with other model organisms:
Human Genome Project is the most historic thing that science has
ever done in biology
But when you look at the genome, consider
what this looks like: page after page of As, Cs, Gs, and Ts in a
particular order. Its impossible to stare at that and have
any idea what it means. So we have to come up with very sophisticated
ways to understand how the cell reads this instruction book. Our
cells know how to do it, theyre doing it right now. But we,
with our current tools, are very imperfect in our ability to understand
this. So, we need lots of other things. We need to sequence lots
of other genomes. If you can compare the human to the mouse to the
rat to the zebrafish to the puffer fish to the cow to the dog to
the honeybeeall their genomes are being sequencedthat
comparison is going to tell us a huge amount about function."
making meaning of the human genome:
see us at the end of the beginning when it comes to genomics. Weve
built this foundation of the sequence and a bunch of other attributes
about it, but the real challenge is what comes nextto understand
how the genome works and to apply it for medical purposes. As a
physician, I am looking forward to those next steps where we figure
out how to interpret who is at risk for what, and what to offer
those people to keep them healthy.
is a wonderful book of medicine. It gives us insight into how things
work. And that will give us the chance to design therapies that
have a high efficacy, that really do treat the disease, with a low
risk of problems. I cant wait."
Collins, Director, National Human Genome Research Institute
understanding human genetic variation:
all almost identical99.9% identicalto every other human
being on this planet. Although most of them are harmless, those
little differencesabout one in one thousandaccount for
our risks of inherited disease in different ways and explain visible
traits in different ways.
a total inventory of all the common variations in the human population.
There are eight to ten million common sites of variation, and already
I reckon we have almost half of them in public databases. Then we
have to start correlating them with an individuals susceptibility
to disease, because I think thats going to turn out to be
our best clue as to which genes matter for which diseases. So, if
over the next four or five years we were to extract all the functional
elements in the genome and be able to capture all the variation
in the genome and correlate it with disease, Id say itd
be a worthwhile half decade or so."
Lander, Director, Whitehead Institute's Center for Genome Research
For more information,
visit the Human
Genome Project Web site and the Human
Genome Resources section of the National Center for Biotechnology
Information Web site.