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This article was originally written for a paranormal magazine called The Paranormal Journal, it became known as The Underground Files covering ghosts, ufos, cryptozoology, and government conspiracies amongst others. I no longer write for the magazine and it is no longer in existence.
We’re not
Talking Garden Gnomes
It’s been three
years since scientists completed a rough draft of the human genetic code, but no
one’s buying personal DNA analysis.
If you want to, you’d better
start thinking of it in these terms, the first draft took 12 years to make and
it cost billions of dollars, so, yeah, knock it off your shopping
list.
Though the cost has fallen,
today, you’re looking at a nifty sum of around $50 million; you could easily
break a bank balance at that, and the target price that wishful thinking to get
it to – is $1,000 for an individual’s DNA sequence.
That’s the price considered
essential for giving scientists the thousands of sequenced samples they need to
understand how genes work, and giving patients access to a personalized DNA
snapshot at your local high street doctors.
Some scientists believe old
methods of DNA sequencing, though improving, will never produce a $1,000 genome,
and they are looking at radical ways of to map the blueprint of human
life.
The methods remain far from
proved. But there appears to be breakthroughs…
“It’s not clear which of
these things will be the ultimate success, but I think these are all pieces of
the puzzle moving in the direction we need to go,” said Jeff Schloss, program
director for technology development at the National Institutes of Health’s
National Human Genome Research Institute.
The human genome project
yielded the first complete sequence of the 3.2 billion base pairs that
compromise the DNA molecule of a person, well that’s telling a little fib, as
they actually sequenced a composition of a few people.
Each base is one of four
chemicals, their order governing a human being’s development.
That was only a starting
point.
While the DNA of one person
is 99.9% identical to another’s, it is the 0.1% of variation that interests most
scientists because the differences may answer certain questions like why some
people develop diseases and others do not.
To answer those mind
boggling questions, scientists must compare DNA sequences of thousands of
people.
To get them, they must find
a way to sequence DNA that, unlike the first sequencing, doesn’t require
thousands of lab technicians and dozens of supercomputers.
“To actually deliver
everybody’s genome, you can’t apply that kind of brute force strategy,” said
George Church, a researcher at Harvard Medical School.
For years, scientists
sequencing DNA have relied upon a lumbering technique electrophoresis. But it
requires expensive chemicals, and without expensive hardware an average lab
would be hard pressed to sequence more than 1,000 base pairs a day.
Yeah, at that speed, it
would take almost 10,000 years to get through the 3.2 billion base pairs in
human DNA. But you guessed that didn’t you?
The new techniques start
from scratch. Talking of scratch, imagine dropping a sample or two along the
way… How many years would that add on…?
In April, a group led by
Caltech researcher Stephen Quake, published the first successful results from
“single molecule sequencing,” or reading DNA one base pair at a time (are you
following this – I’m only writing this).
Quake’s group uses a
fluorescent label to mark the free molecules that surround DNA, then tracks
which molecules are used when the DNA makes a copy of itself.
The technique works on only
five base pairs at a time, but Quake says many sequences can be read at once. I
got that... Well, another little fib…
In an article published in
the August edition of Science, Church’s lab reported progress on bathing DNA in
different frequencies of light to produce a colour coded snapshot revealing the
order of a DNA sequence.
David Branton, a Harvard
colleague of Church’s, is working on a method Schloss considers among the most
promising - that of shooting DNA (sounds disgusting) through a tiny hole called
a nanophore and measuring the electric signals each base pair emits.
In another recent
development, a Branford, Connecticut company 454 Life Sciences announced it had
sequenced genome of a virus about 30,000 base pairs long – by dropping DNA into
tiny wells and is now working on bacteria, with 2 million to 8 million base
pairs.The company hopes
to make its way up to humans.
Other companies
can compare one strand to a reference, like that provided by the human genome
project, and highlight differences.
That could help scientists
recognise the 99.9% of identical base pairs, and allow them to focus on the
remaining 0.1%.
Woburn based U.S. Genomics
in Massachusetts, for example, tags certain sequences then shoots them past a
laser, which detects the tags as they go by.
Many of these techniques
solve some of the problems with electrophoresis, but none of them solves
all.
Knotty obstacles remain,
like ‘blurring’ of the base pairs’ fluorescence, or finding computers that can
crunch all the numbers these methods produce.One skeptic, Elaine Mardis, a
genetics expert at Washington University in St. Louis, is concerned that too
many labs are releasing “data by press release” rather than subjecting the
information to scientific review.
She isn’t convinced that
scientists are solving problems such as how to read longer DNA structures or in
developing precise instruments to perceive fluorescent light.
“Honestly, it’s going to
take 10 to 15 years to get there,” she said of the $1,000 genome. “The
non-scientific public is hearing this and saying that sounds really great, and
people must be at that goal because they’re talking about it. That’s totally not
the case. This is the plan for the future, and the future is not
now.”
We’re not
Talking Garden Gnomes written by Bill Barber
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