Looking back at the last decade, I believe one of the most fascinating scientific discoveries has been the Human Genome Project, not only due to what it can tell us about ourselves, but also because of the implications the results carry.
Although the Human Genome Project (HGP) began in 1990, it was not until 2003 that Craig Venter’s goal of mapping the human genome in its entirety was completed. Not only did the HGP identify the locus of genes, it also succeeded in identifying the function of these genes.
The HGP revealed that humans have approximately 23,000 genes. Moreover, it also revealed more than 1,800 genes that code for disease, allowing for genetic testing to be carried out for such diseases.
Implications of the Human Genome Project are vast and varied. Having someone’s human genome mapped could prove to be a preventative treatment for diseases as it shows us when a person is predisposed to getting these illnesses.
Moreover, the HGP can tell us about gene expression, which has the possibility to one day reduce the emergence of undesirable characteristics.
Having spent a large chunk of both the second and third topics (which, incidentally, is titled ‘The Voice of the Genome’) of AS Level Biology studying genetics, it is without hesitation that I say the Human Genome Project has had (and will continue to have) a large impact on my education.
We take for granted what we now know about the human genome. Just 59 years ago Watson and Crick discovered that DNA has a double helix structure – a now-iconic image that is now embedded in not only science, but popular culture as well.
Jumping ahead 50 years to 2003, thanks to the HGP we now know how many genes the human genome consists of, the function of these genes, and more information about the expression of these genes.
It seems bizarre to think that ten years ago, we would not have known that the human genome consisted of 23,000 genes (initially estimates of the HGP thought that we would have an excess of 50,000 genes!). Furthermore, with all of the additional information the HGP has provided us about gene expression and genes that code for disease, it does make me ponder how different my last year of study would have been before the completion of the HGP. It seems strange to talk about building or repairing a car whilst only having a vague idea of what the parts consist of (although most mechanics seem to manage!).
The Human Genome Project has not been without its detractors, however, and has received its share of (unwarranted, in my opinion) criticism from fundamentalist Christians. This passionate zealot already credits the HGP with being responsible for the ‘inevitable’ mass discarding of blastocysts after genetic screening despite pre-implantation genetic diagnosis not yet being performed on a mass scale to non-IVF or ‘at risk’ patients (?!).
The more intelligent (and, thankfully, more present) population with ethical concerns do have some valid points, however. If we can successfully identify which genes are responsible for which characteristics, or have a thorough understanding of gene expression, there is scope for ‘picking and choosing’ which genes are present or expressed, leading to cries of ‘designer babies’ from some cynics.
To me, however, the benefits of the Human Genome Project far outweigh the potential risks. Knowledge should be boundless, but what we do with that knowledge is our responsibility.
References
- National Human Genome Research Institute. (2004). Human Genome Project. Available: http://www.genome.gov. Last accessed 5th July 2012.
- Dr. Hani. (2010). Human Genome Project. Available: http://www.experiment-resources.com/human-genome-project.html. Last accessed 5th July 2012.
- Human Life International. (2012). Facts of Life: Chapter 2: Abortifacients: How the Definition of “Conception” has Evolved, and Why This Is Important. Available: http://webcache.googleusercontent.com/search?q=cache:0HkbaKsZNkoJ:www.hli.org/index.php/cloning/245%3Ftask%3Dview+pro+life+human+genome+project&cd=4&hl=en&ct=clnk&gl=uk&client=firefox-a. Last accessed 5th July 2012.
Your enthusiasm for the subject is coming through well here. Your reflection on science before the mapping of the Human Genome got me thinking about how I learnt genetics in 1996-1998, well before the HGP. I have a funny feeling I didn’t really come across the term “genome” until the big Nature edition in 2001. Then I remember going to the Earth Sciences library, getting the journal out and spreading out the maps along the full length of one of the huge tables. I had absolutely NO idea what it all meant. Four years earlier the film “Gattaca” had investigated some of the pitfalls of knowing what all our genes did and what could happen if that was teamed up with pre-implantation genetic diagnosis (though it was a little extreme in its views!), but the actual culmination of the teams’ work on the HGP really was groundbreaking. I think if I were doing the homework I set I may have picked the HGP too (although all your classmates who are doing this assignment after 4th July will have perhaps a rather easy time of it, what with a Higgs boson and all).
Just a bit of a tip in case you want to put in journal articles (I think it’s great that you’re referencing everything by the way). It’s nice to put in the website where readers can find the article, but sometimes that URL disappears. So there are now numbers associated with at least the more recent articles, called DOI numbers, which can be associated with a DOI address that automatically forwards to the official location online for that article. There’s an example of that in use in a reference at the bottom of this post by some crap biology teacher…
Thanks for the tip about journal articles. I do remember seeing ‘Gattaca’ several years ago but barely remember it (it has only just occurred to me that the title is a reference to the nitrogenous bases!). Perhaps I should take another look. The overreaching of science is a strikingly familiar topic in popular culture, the most famous examples I suppose being ‘Jurassic Park’ and ‘Frankenstein’. After reading the latter I actually became quite interested in the history of galvanism.
I do wonder just how different the Edexcel specification would be without the HGP.
Great post on the advances in the HGP. I finished my A levels in 2003, so it’s astonishing how much advances in this field have changed science. There are now research institutions (have a look at the Genome Damage and Stability Centre – at Sussex uni where I did my degree) who are dedicated to investigating how our genomes are constantly being damaged and repair themselves. This whole area of science is brand new and very exciting!
Good luck with your blog.
Thank you very much. The Genome Damage and Stability Centre looks like its doing fascinating work with amazing possibilities.