Wednesday, October 01, 2014

To Meet The Gene Genius

I have often been asked what I consider to be the most impressive scientific discovery of my own lifetime. It is a good question, capable of invoking endless fascinating debate. In my view, though, one stroke of post-1966 genius stands head and shoulders above all else. If I could – in my dreams – have been responsible for just one piece of research, this would undoubtedly be it.

The story began in Alameda County, California in 1983. A young post-doctoral biochemist was driving late one night with his girlfriend (also a scientist) when a promising idea occurred to him. His hypothesis, if proven, would bring about the exact replication of a short strand of DNA, with all base-pairs (genetic building blocks) in their correct sequence. Each replicate could then itself be replicated, over and over, until the tiniest trace of DNA had, by simple addition of raw materials at optimum temperatures, been amplified, with total fidelity, to create a significant mass. This process, called the polymerase chain reaction (PCR), has since revolutionized not only biochemistry, but also genetics, forensic science and modern medicine.

The name of this brilliant American is Dr Kary B. Mullis (Figure 78.1). He was rewarded in 1993 with, inevitably, the Nobel Prize in Chemistry and has since been inducted into the (US) National Inventors Hall of Fame.

Figure 78.1: An early picture of Dr Kary Mullis (1944-). In his 1996 book entitled Making PCR, anthropologist Paul Rabinow echoed my own feelings: ‘Committees and science journalists like the idea of associating a unique idea with a unique person, the lone genius. PCR is thought by some to be an example of teamwork, but by others as the genius of one who was smart enough to put things together which were present to all, but overlooked. For Mullis, the light bulb went off, but for others it did not. This is consistent with the idea, that the prepared (educated) mind who is careful to observe and not overlook, is what separates the genius scientist from his many also smart scientists. The proof is in the fact that the person who has the light bulb go off never forgets the “Ah” experience, while the others never had this photochemical reaction go off in their brains.’

Copyright © 2012 Datos Freak

I have used Dr Mullis’s PCR technique in a university forensics laboratory (Figure 78.2). Extracting DNA from a single colony of bacteria, then copying it to perfection millions of times over, was utterly compelling. When I discovered that my theory was workable, I was spellbound, not to mention completely in awe of Mullis’s logic. Without PCR, my project would have been impossible, and DNA science in general would still be in its dark ages.

Figure 78.2: A treasured photograph taken after a crime scene analysis. My PCR-inspired forensics dissertation can be viewed at and I like to think the broad thrust of it can be understood by anyone prepared to make the effort.

Copyright © 2008 Paul Spradbery

Imagine, then, how I felt when, earlier this week, I received a personal invitation (Figure 78.3) to the Royal Institution of Great Britain (Figures 78.4 & 78.5), in London, in order to meet the Nobel Laureate himself and hear the story of his far-reaching innovation on the thirtieth anniversary of its publication. The event, sponsored by drug development company Altermune Technologies, takes place on Monday (October 6th), and promises to be uniquely memorable.

Figure 78.3: A welcome invitation, sent to biotechnology academics, entrepreneurs, investors, journalists ... and yours truly

Copyright © 2014 Altermune Technologies

Figure 78.4: The Royal Institution of Great Britain, on Albemarle Street, London, has, for more than two hundred years, brought science to the British public and to the rest of the scientific world.

Copyright © 2013 Astellas Pharma Europe Ltd

Figure 78.5: British inventor and electrical pioneer Michael Faraday (1791-1867) presented the Christmas Lectures at the Royal Institution. His world-changing discoveries were made in its basement.

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Copyright © 2014 Paul Spradbery