6 ms·
Matt is an incredible human being. I reached out to Matt (as a stranger) on behalf of a relative with a rare genetic disorder and was humbled by his support and
by tbenst 11y ago
Matt is an incredible human being. I reached out to Matt (as a stranger) on behalf of a relative with a rare genetic disorder and was humbled by his support and generosity.
Matt is a true mensch and a hero in rare disease diagnosis. What words I have are insufficient to express my deep admiration and appreciation. Well worth your time to read a bit about Matt's work.
- agumonkey 11y agoI wish his endeavor with government support will yield interesting pragmatic advances.
- nextos 11y agoThere's a lot of really basic modelling of genes that can be done for rare Mendelian diseases using formal language theory which is surprisingly not there yet. I am working closely with some Genomics England people (100k genomes, many from rare disease patients), and as someone with a pure CS background but also some years of biology the rather primitive state of the art never ceases to amaze me. Matt mentions pi-calculus, but much more basic things are not there yet!
- agumonkey 11y agoI'd love to read more about that, is there any public document about your work ? ps: it seems like another point for polymathy.
- nextos 11y agoNope, but we will have a Nature paper out quite soon. If you want some info, ping me. Contact email is on my profile. I think we desperately need some startups in this arena that lean towards open knowledge. I know some very well funded ones in stealth mode which are producing pretty awful and closed prediction models. I don't want a future where my doctor uses information coming from a blackbox. The point about polymaths is good indeed. But they are hard to find. I have some funding, but found it incredibly hard to hire / team up with someone good enough. Most get lured into finance, which pays well but might not be the most useful thing for humankind.
- agumonkey 11y agoPolymath at the individual or company level (cross domain would be more appropriate ? DNA Crystallography comes to mind) I couldn't agree more with you about openness of advances in medicine, it saddens me that too few people care about this. I wish I was in a position to help in any way. I'll keep your mail in mind too.
- nextos 11y agoBoth. Well, I think focussed individuals with 1 area of expertise are fine. But you need someone who is at least a a very good computer scientist, has some formal background in probability theory and ideally grasps genetics quite well (which is far from trivial as it's a moving target).
- S4M 11y agoHey nextos, I'd love to hear about your work, but your profile doesn't contain your email. Mine does, can you drop me a note?
- deleted 11y ago[deleted]