Aug 15 2011

MS and the Promise of The Genome Project

The Human Genome Project  (HGP)- the project to map the entire human genome – was one of the big public science endeavors that captured the imagination. It started in 1990 and took 13 years to complete, completing the map in 2003 (but certainly not ending the project). Unusually for most such big projects, it was completed ahead of schedule and below budget. The project benefited tremendously from improved techniques and advancing computer power. Sequencing the first genome took about 300 million dollars. Today we can do it for about 10,000 dollars, and the price continues to fall geometrically (about half every 9 months).

By all accounts the HGP was a huge success. But 8 years after the completion of the first human genome map there is the vague sense in the public that the promise has not been fulfilled. The public was promised that the HGP would allow us to identify genes associated with diseases, and then craft cures based upon that knowledge. So where are all the genetic cures we were promised?

What is really going on is that even a big-picture successful science project like the HGP can be overhyped by the press. By mapping the human genome scientists were given a powerful tool with which to investigate disease. It still takes, however, a tremendous amount of research to translate that tool into specific knowledge about an individual disease, and then further translate that specific knowledge into a proven treatment. The pipeline for translating the basic knowledge of the HGP into an actual treatment is about 15-20 years optimistically (and that is after a specific disease is pursued genetically.

The effect of media hype is to make the public impatient, as if results were right around the corner, and then feel disappointed or cheated. But have patience, and the promise will likely be fulfilled. I think there is a good analogy to the internet and the world wide web. Around the same time as the HGP was started, 1990, the web started to come into existence and public awareness. It was, of course, hyped by the press with the promise that it would transform the economy, the way we communicate and do business. Then, a decade later (after the tech bubble burst) it seemed like the promise of the internet was mostly hype – a few killer online services had emerged (like eBay) but overall the web seemed like a fizzle. Now here we are another decade later and I think it’s fair to say the promise has been fulfilled. We have social media, internet businesses, free online communication, and much more. You can also carry it all around in your pocket. If the internet was a disappointment in 2000, I would say in 2011 it has exceeded expectations.

I suspect the HGP will be the same (perhaps not as quickly). Give it another decade or two and we will look back at the amazing success of mapping the human genome.

Here is one nugget to whet your appetite. Recently it was published in Nature the results of an international effort to examine the genetics of multiple sclerosis (MS). Previously we knew of about 15 genetic variants that increased the risk of developing MS. The latest study increased that number by 29. MS is a complex set of diseases, and there are environmental factors as well. But now we have over 40 genes, genes that are involved with the regulation of the immune system, that are known to make one susceptible to the disease.

This will not lead instantly to a treatment or cure. But it does provide a powerful window into understanding the disease. What proteins to these genes code for, and what are the functions of those proteins? How are the immune systems of people with genes that predispose to MS different from those that do not? This might provide an insight into how we can tweak the immune system to turn off the attacks of MS.

Now don’t get too excited – it may take a decade or two to fully realize the benefits of this new knowledge about the genetics of MS. Research takes a long time to grind slowly forward. But it is nice to celebrate the occasional big milestone – like the HGP and this latest advance in understanding the genetics of MS.

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