3 ms·

In what way is experimental analysis of such mutations a bottleneck?

• hirenj 14y ago
  Well, once you pinpoint a potential mutation on a gene - that gives you a starting point into the pathway that could be possibly producing this particular disease. From there, it's sort of like clicking outwards from a wikipedia page, except instead of wiki pages, its related genes. Every one you go to, you read and find out what people know about it. You then start to form a picture in your head as to what the mechanisms of action are for this particular gene - what it does and how it is regulated. From there, you build your model for how the gene works, and do some knock-outs / knock-ins, test it in various cell lines, verify the kinetics, try to find out the 3D structure. Really, anything you can do to get a handle on how this actually works in the system. It's quite normal for people to spend their entire PhD studying the mechanism of action for a single gene!
  • Dn_Ab 14y ago
    What can be done to speed this process up? What parts can be automated? Is the process for every gene unique or can some steps be factored out?
    • hirenj 14y ago
      The common factors in this are having smart people looking at it, unfortunately. We're working on various ideas to become much more efficient at it, but it's a really hard slog.