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Comment by waffle_ss | Hacker News Reader

Thanks so much for the fascinating and emotionally stirring article. I will definitely be passing this on to others I know.

The thing I kept thinking during the article is, "Is there something that I, as a programmer, can do to help people like Bertrand?"

Is there some way that we programmers could use our talent to augment or advance existing technology in this area? I realize that the science involved here is non-trivial, but it seems like a really fascinating subject area to get involved in. Perhaps I just need to bear down and brush up on my biology.

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Sure, go in to bioinformatics research. You might even end up doing something that benefits humanity more than trying to make the next Facebook! Data is piling up faster than we know what to do with it.

There are a lot of problems to be solved that might benefit from computer science. De novo Protein structure and function prediction, better alignment from noisy data, drug target discovery, homology modeling in the twilight zone, better ways to share the data that we do have, better databases to store the data from high-throughput experiments, better ways to compare pathways and biochemical networks, and all of the other things that I could go on to list.

There is no shortage of problems to be solved, only shortages of good people and funding.

>You might even end up doing something that benefits humanity more than trying to make the next Facebook! Data is piling up faster than we know what to do with it.

It's worth mentioning that some of the best tools for letting us do something with it come from the current facebook. I'm constantly tempted to move into academic research rather than helping people get their porn faster, but it seems like a very superficial judgement to say that would be better for humanity in the long run.

Fair enough, but who is to say those tools wouldn't have been developed if those people were doing bioinformatics research instead.

It is frustrating seeing all of the failed startups that thought their poorly thought out plan and execution would create a product that is actually useful. We would be much better off if someone would take the time to explain to people why their idea sucks and save them the time and money that would be wasted on executing it.

If more people move into bioinformatics, I hope that the funding continues to keep up. The worst would be an abundance of willing bioinformaticians coupled with a dearth of funding (startup/grants/etc).

Computational biology is a field with much room to grow.

Finding a mutation is just the start of the journey for someone like Bertrand.

Once you find the mutation, you have to figure out what the mutant gene does versus the normal gene.

Duke had to work with a lab, culturing cells from my son and poking at them to figure this part out.

If we were better at predicting the structure of proteins from the DNA that encodes them, we've taken a big first step toward automating/simulating the "functional work."

Protein folding is a nasty research problem at the intersection of chemistry, biology and computer science.

I've spent a bit of time waffling about writing this. I hope I'm not crass.

There's a major problem with incentives in attracting people to research. Why should supply and demand behave differently at universities? I believe that research is an example of the tragedy of the anti-commons.

If I were to jump back to computational biology my lifetime wages would conservatively decrease by $5 million, non-inflation adjusted. Many people are unable to accept lower wages for more interesting work. The wheels of scientific progress will turn slowly as long as it is the sole realm of those able and willing to accept substantial economic sacrifices.

I want to help, I'm just not able.

waffle_ss: Counsyl is a group of computer scientists working on literally this exact problem. We've already put a big dent in the issue with our v1 assay. We are now working on our v2, which is optimized for detecting mutations of the kind that Prof. Might and his wife carried. Take a look at the job description here for more info:

http://goo.gl/kMrxk

Tell me what you think.

It seems like one of the biggest ways we can help is in trying to find more people with the same mutation.

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