STANDING ON THE SHOULDERS OF GENETIC GENESIS DWARFS

The short passage below is from Technology Review’s description of one of the under 35

Photo is of a bridge in France I believe. It's a long one!

scientists working today to expand the range of human knowledge. The dwarfs upon whose shoulders they stand are the millions of the religious who are incapable of understanding even a tad of what these men and women are talking about. It’s a bit frightening to realize the ignorance and superstition that circles in this American culture around people of rational caliber. It’s even scary to a layman like me who understands just a little more than those who still believe in the validity of books in which fortune telling plays a significant role, books in which fortune tellers called “prophets” are honored. Just that simple awareness is pretty shocking—to know that the average Christian does not fully acknowledge to himself that the prophets he honors are no different in their methods, techniques and results than the average fortune teller down on Sprague Avenue who for a ten-spot will contact “those who are on the other side”. Because Xtian fortune tellers are cloaked in the dubious mantel of their holy books, the average literalist can’t achieve the reality based insight that all a prophet is is a fortune teller. Ask them if they believe in fortune tellers, then ask them if they believe in prophets. I’ll bet they can’t acknowledge the similarity.

I stand open-mouthed at the sight of those who remain in Dark Age darkness after all these years of progress brought about by scientific knowledge, who still kill one another over whose hypothetical superman is the more powerful delusion. They are like cavemen dancing around a bonfire, recognizing only that light, while ignoring the sunlight streaming down from above, sunburning their noggins with rational knowledge. One can only wonder when they’ll see the light!

OPEN QUOTE] Though researchers have finished sequencing the human genome, it is still far from understood. A major objective of biotechnology is to develop the experimental and computational tools necessary for deciphering the signals encoded within the genome and to understand their role in human health and disease.

Much remains unknown. It is still a matter of debate exactly how many genes the genome encodes, or even how a gene should be defined. In addition, scientists are just beginning to understand the array of regulatory sequences that punctuate the genome and dictate when certain genes are turned on and off. The complex code within these elements has yet to be deciphered.

Comparative genomics can shed the powerful light of evolution on these unknowns. Functional regions of the DNA sequence, such as genes and regulatory regions, have been well conserved, remaining largely unchanged across related species through millions of years of evolution; but DNA sequences that do not code for genes or regulatory regions change more rapidly. To help us understand the evolutionary constraints of functional elements in the human genome, the National Human Genome Research Institute has recently expanded its sequencing efforts to include additional mammalian genomes.

In my group, instead of simply searching for highly conserved elements, we search for elements that have changed in particular ways. By comparing various genomes, we have found several evolutionary signatures—common patterns in the way a particular DNA sequence has evolved over time. We are now using these evolutionary signatures to reanalyze the human, yeast, and fly genomes and have already uncovered hundreds of novel genes, novel exons, and unusual gene structures.

We have also used genome-wide conservation patterns to define subtle regulatory motifs that are another type of evolutionary signature. Coupled with rapid string search algorithms, these signatures have led to the discovery of a complete dictionary of known and novel regulatory elements in the human, yeast, and fly, revealing the building blocks of gene regulation.

These evolutionary signatures are universal across kingdoms of life. With complete genomes, we can use them to elucidate common evolutionary principles, interpret our genome, study human variation and evolution, and revolutionize our understanding of human biology. [CLOSE QUOTE]

Manolis Kellis is an assistant professor of computer science at MIT and one of Technology Review’s top 35 scientists under thirty-five years of age. He’s one of those to watch.