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Spring 2009

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WWW.hPLUSMAgAzIne.CoM 27 Moira A. gunn, Ph.D. hosts "bioTech nation" on nPR Talk and nPR Live. She's the author of Welcome to bioTech nation: My Unexpected odyssey into the Land of Small Molecules, Lean genes, and big Ideas, cited by the Library Journal as "best Science books of 2007." Copyright 2008 Moira A. gunn A team of Swedish scientists from Karolinska Institute discerned that men with the "334 version of the AVPR1A gene" had trouble committing. They were less likely to be married, and if married, were more likely to report having marital problems. having two copies of this DnA only made things worse in the marriage and serenity department. And thus, a little bit of DnA information leaves open the door to a lot more inquiry. but when we talk about "whole genome" DnA — and a whole planet — how much data would that be? The calculation appears to be simple: each human has some three billion base pairs of DnA, each represented by a letter. That would be six billion letters, or siz gigabits of data. Your own DnA data would fi t on thumb drives already fl oating around in your possession or on the memory chips of your digital camera, but that adds up when we get to all the humans on the planet. In round numbers, there are six billion-plus folks, and that makes six billion humans times six gigabits, and that's a whole lotta data. Then we have the big presumption that we have the technology to store all that data, and to analyze it, and that in doing so, there would be value. Which returns us to the question: Does it follow Metcalfe's Law? Does the value of the human network of decoded DnA grow with every human fully decoded? It would seem not – the value of the second telephone is only compromised if we don't want to talk to the second person, but we are quickly motivated to fi nd someone we want to speak with online. With DnA, it doesn't appear to work that way. In fact, that's possibly been proven by whole-genome decoded human number Five. This time it's a woman, and it's completely different. Read the november issue of nature if you want the details, but the basic story is this: A woman in her fi fties had developed acute myelogenous leukemia (AML), a very aggressive cancer. Washington University scientists decoded the DnA of her tumor cells and then also decoded the DnA in her normal cells. And why? The clue here is that whenever a cell divides, it can mutate. And that mutation can be carried forward every time the cell divides from then on. over a lifetime, particular cells in your body can mutate a lot. When you have cancer, there has been a sequential series of mutations in some of your cells, which, when combined with your starter DnA, has created a formula in which your cells can — in the vernacular — run amuck. That's right. If you have cancer, the DnA in your tumor cells are different from the DnA in the rest of your body. So, we humans are not just a single set of DnA. Mutations happen. Pair them up with your starter DnA, and the result can be benign or deadly. That's why the decoding of human number Five was a lot more interesting — for the fi rst time, scientists examined two complete sets of DnA within the same person. Previously, two gene mutations were associated with AML. After decoding this woman's DnA and performing a whole lot of sophisticated computer analysis, they have uncovered 10 mutations. Three are in genes known to suppress tumor growth — that's not good. Another four mutations were found in genes known to promote cell growth — which is bad if it's a tumor cell. Another gene basically strong-armed the chemotherapy generally prescribed for these patients, so the patient would suffer all the side effects of the treatment and little, if any, of the benefi ts. Why this set of DnA mutations created a dire situation became eminently clear. To see if they could generalize, the scientists looked at 187 other AML patients — none had these new mutations. They suspect that cancers may be very specifi c to the individual. They believe that cancer cells develop successively, mutation by mutation, until some particular moment when a cruel combination of new mutations and starter DnA arrive together and a catastrophe of cell growth occurs. So what does this mean — at least on a digital data level? Without a doubt, we are now experiencing the big bang of biotech Data. not because we can simply create all this DnA data, but because we need to create all this data to fi gure out who we humans are and how we tick. but unfortunately, we don't know what data we need for what, and what — in the end — will prove useful. We are still shooting in the dark. So, while with the simple telephone example, we can easily get a sense that Metcalfe's Law is true for networks, it doesn't quite translate to DnA. but that doesn't mean we can't have a law about it. I call it "Moira's Law": "The value of decoding human DnA is proportional to the number of people who will benefi t." I'm sure I'll be changing it as the bio age unfolds, but in the meantime, it seems to me like a good way of thinking about it. A team of Swedish scientists from Karolinska institute discerned that men with the "334 version of the Avpr1A gene" had trouble committing.

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