An exciting new development in genetic research, Wired is highlighting new research being done by Dr. Stephen Waxman. Using gene-sequencing, Waxman may have discovered the link between SCN9A, which encodes Nav1.7 — a sodium channel that affects how people feel pain.
This is how Waxman first encountered Pam Costa’s family. He reached out and began gathering DNA from 16 of her cousins, aunts, and uncles who suffer from erythromelalgia. He sequenced their genes and used them to create faulty Nav1.7 channels, which he added to cells; he then tracked how these channels responded to stimuli. The results not only demonstrated that SCN9A mutations made Nav1.7 channels more likely to open (meaning harmless stimuli often triggered feelings of pain) but also showed that when those channels opened, they did so for longer, amplifying the feeling of discomfort. It was the breakthrough Waxman had spent his life working toward: “We now had a fully convincing link from Nav1.7 to pain.” This meant that if his team could somehow regulate or even turn off the Nav1.7 channel, they could regulate or even turn off how we experience certain kinds of pain.
Click here to read more about how this incredible research could absolutely change the course of medicine.