This week we celebrated Thursday, April 25th, which since 2003 has been referred to as DNA day! It was in fact the 60th anniversary of the groundbreaking elucidation of the 3D helical structure of our genetic material by the legendary British duo of Francis Crick and James Watson, who published their discoveries in the prestigious pages of "Nature".
I am of course referring to the famous double helix of deoxyribonucleic acid (DNA), and it is impossible to overstate the impact that the work of Crick and Watson (among others) had on biology and medicine. Suddenly we were able to better understand how our genetic information is stored and transmitted, and evolution became much less of an hypothesis and much more a reality that could be proven.
The 2003 date has a significance that owes much to Crick's and Watson's 1953 publication, but which also stands on its own two feet, or rather on some three billion building blocks. It was in 2003 that the enormously ambitious project to sequence the entire human genome, known as the Human Genome Project (HGP), came to conclusion after 13 years.
The various teams on the HGP combined their data in an effort led by NIH Director Francis Collins to provide a reference sequence of the three billion base pair genetic code, at a cost of some $3B, or more or less a dollar per code letter. Cheap at half the price, as they say in Ireland! By 2003 it was basically a done deal, with the few remaining missing pieces considered too expensive to chase further. The 60th birthday of DNA is thus simultaneously the 10th anniversary of completion of the human genome sequence.
Congress declared April 25th DNA day on that date in 2003, timed to coincide with and underline the 50th anniversary of the staggering discovery of Crick and Watson. You can imagine how it must have felt for those who discovered the structure of DNA 50 years before to see the publication of an entire human genome. Francis Crick lived to see that happen, before passing away in 2004, and his colleague Jim Watson actually became only the second person on the planet to publish his own genomic sequence.
Watson led the HGP for a couple of years, but ran into conflict with Bernadine Healy, the then director of NIH, over an item that remains contentious to this day - the business-like approach to the genetic material of nature by actually patenting pieces of DNA. Watson, a hardcore fundamentalist, strongly opposed the idea that people could claim ownership of and profit from what was in effect a public project, and one that involved reading a code that was synthesized by a force greater than man - nature, and evolution.
The concept of profiting from a sequence derived from many millions (billions in the bigger picture) of years of evolution remains controversial to this day, and in fact the Supreme Court recently debated whether one should be allowed to patent DNA sequences or not. To date some 4,000 patents have been granted by the USPTO, covering about 40% of the human genome. However, if the court ends up ruling in favor of those who contest the right to file on a DNA sequence, those 4,000 patents could be negated.
Like everything else in science and medicine, life is rarely uncomplicated. However, as a scientist it was a nice change to see that we overestimated our own complexity in terms of the number of genes that the human genome contained, and even the fairly recent estimates of 30,000 prior to completion of the HGP were still off. In the end, it appears that our entire genome encodes a mere 20,000 gene products, but quite clearly we also discovered that what we refer to as "junk" DNA is anything but that.
Of course, we were all in love with the thinking that a completed human genome sequence would revolutionize our lives and the world of medicine, and it has, but in a more general rather than specific nature, thus far. Watson is not only occasionally cantankerous, but he is a cantankerous visionary and he foresaw the era of personalized medicine that is very much in vogue in modern research and medical therapy today.
We have not yet harnessed the full power of knowing the sequence of our DNA code, and of the some 54 million variations identified so far which certainly are telling us something about our lives, the aging process and susceptibility to disease - we just haven't figured it out - yet. Let's hope that in our lifetime, we get to see a day where our own DNA sequences can be used to stratify us as patients so that our chances of being cured by choosing a particular course of action will be maximized. That day is coming, but it won't be tomorrow.
The discovery of the beautiful double helix remains one of the most spectacularly visionary in the history of science, and well merited the Nobel Prize that Watson and Crick received in 1962, when they were still young men in their 30's and 40's, respectively. The impact of their work on contemporary biology and medicine is immeasurable, and we all stand a chance of benefiting from their research, one day.
It's a lovely sunny day today, the first real spring Saturday of the warmer season, and so I think I will pay homage to DNA, or mine more specifically, and see if I can't modify it a little (beneficially) by running up a sunny mountain trail and reaping the genetic rewards. Happy 60th birthday, dear DNA! ;) - Kevin Mc