genomeboy.com

This afternoon I elbowed my way through a SRO crowd to hear Svante Pääbo talk about genomics as a tool to understand human origins. If you follow the paleogenomics literature, I suspect not much of what he said was new. I was familiar with a fair bit of it, but thought it was fascinating nonetheless.

His first topic was the study of positive selection in humans, that is, trying to find traits (and the genes that encode them) that put early humans at an evolutionary advantage. Obviously, it is those things that are likely to help distinguish us from our nearest primate cousins.

The second part of his talk was on the Neanderthal genome, which his group is using 454 sequencers to reconstruct. My God, what a painstaking job: throwing away 98% of what you’ve got because of contamination from modern human and/or microbial DNA and then standing on your head to make sure what’s left is truly Neanderthal. Brutal.

But what made me nearly fall out of my chair was when Pääbo talked about what he says is evolutionary genomics’ greatest unfilled need: rigorously defined human traits. That’s right, clean phenotypes! Sounds familiar, no? I imagine every PI doing genetic and genomic research on actual living human beings has more or less the same complaint. Think about your own medical records (assuming you have them at all and have seen them, which are two huge ifs): how valuable are they to your own health, let alone to science? From what I can tell, mine are worth bupkes (sorry, George!). Somehow, after schlepping out of Africa 100,000 years ago, you would think we’d've made it further than this…