Over 80% of Tibetans have a special gene named EPAS1 on a long segment of DNA that gives them the inherited ability to thrive at high altitudes. They live in high mountain valleys and plains which average 15,000 feet in altitude. The strange thing is that this long sequence and the gene are very uncommon. In fact, scientists had no idea where it came from. A very few Han Chinese had it as well as a few Melanesians and people from New Guinea. Then, roughly 4 years ago a finger bone from Southern Siberia was sequenced. The genetic sequence was so different from modern humans that it formed the basis for a new sub-species of humans named Denisovans. I bet you know here, what they found? It had that matching gene sequence and the EPAS1 gene in it. I think I have read that the Denisovan genetic sequence was about 500,000 years old. That's when modern man and Denisovan's diverged. Denisovans have been extinct for most of that time. But to have that entire sequence, the inheritance must have been recent. How in the world did that isolated population in Tibet inherit that antique sequence as a whole?
What the EPAS1 gene does is to allow Tibetans to live and flourish in an atmosphere containing 40% less oxygen than those near sea level. The are acclimated without having to go through a gradual process of building up more hemoglobin. In fact, they don't need as much hemoglobin. This in itself is a miracle because they don't develop very severe side effects associated with blood thickening such as hypertension, strokes, and preecclampsia. You can imagine how this might benefit many of us with the diseases of modernity like high-blood pressure and stroke. Imagine being able to treat high blood pressure without the sometimes severe side effects of today's medicines?
There's a lot more work to be done here. This work and the analysis of this rare gene is just barely started. Imagine how our databases of population groups and their genetic diversity might help us by spotting unusual genetically given health factors in our basic blue-prints of life. There are huge ethical questions. Do we make these findings and associated medicines available to rich and poor alike or do well allow them to be sold at the greatest costs that demand and supply permit? Are they public goods based on our human genetic diversity and regulated like necessities like clean water, clean air, electricity, and natural gas or do we make them into profit centers that only a few can afford?
I hope we learn to give to all as a common heritage of our group humanity. There's a lot of good reading in this article and enough mystery to write a fascinating spy novel from it all. Search for EPAS1 in Google and you'll find a treasury of good reading. Let me know what you think of this public versus private dilemma. How do we allow such discoveries and resulting treatments/medicines benefit the widest possible group of people who may benefit from cures and treatments? It's no easy question is it? #medicalresearch #genetics #bioengineering #geneticresearch #humangenomeproject #geneticdiversity #geneticdisorder #humangenes #genetherapy