mattmight

10 ms·

1. 61.▲
   by mattmight 12y ago

   Thanks for the kind words and your original comments! I'll certainly post another update when we reach the next critical milestone in this disorder. We're making rapid progress in understanding these kids at a cellular level. I&#x
2. 62.▲
   by mattmight 12y ago

   (There's a shout-out to HN in the article.) Two years ago, HN was the first to pick up on a post I wrote about my son's preliminary diagnosis via experimental exome sequencing: https://news.ycombinator.com/item?id=
3. 63.▲
   Thanks, HN: You helped discover a disease and save lives(newyorker.com)

   1483 points by mattmight 12y ago|109 comments
4. 64.▲
   by mattmight 13y ago

   > very first program simply does not work Guilty. Facepalm. Embarassed. Fixed. > lack of strict Not in scope (it's not a tutorial on good Perl), but I'll mention it. > lack of warnings Added a general disclaimer in the
5. 65.▲
   by mattmight 13y ago

   You're exactly right. An alternate theme for this article might be: "What happens when a formal semanticist looks at Perl?"
6. 66.▲
   by mattmight 13y ago

   Over the course of the article, I tried to show as many different ways of doing something as possible, without assigning judgment as to the "right" way to do something. If you point out instances where I only documented the old sy
7. 67.▲
   by mattmight 13y ago

   Article author here. To be clear, this is not a tutorial on writing good, idiomatic Perl. (And, I've strengthened the article's disclaimers to that emphasize that.) It's a semantic excavation of Perl. My goal was to understa
8. 68.▲
   by mattmight 13y ago

   I write the HTML directly, and stitch it together with...bash scripts.
9. 69.▲
   by mattmight 13y ago

   This is a great idea. Since I'm using these as lecture notes for my class, I'll try to add it in before I teach today.
10. 70.▲
    by mattmight 13y ago

    I was on the fence about adding [[ ]]. I think I'll add it in a revision. I also agree on bash being quirky. I tell my class that the gold standard is a bash script that works 99% of the time.
11. 71.▲
    by mattmight 13y ago

    Thanks! I created these as the lecture notes for my class this morning.
12. 72.▲
    by mattmight 13y ago

    Thanks for the heads up. I'll add a note on this.
13. 73.▲
    by mattmight 14y ago

    Yes, of course it is. It is necessary to extend human knowledge to get a Ph.D. It is not necessary to get a Ph.D. to extend human knowledge. /article author
14. 74.▲
    by mattmight 14y ago

    Thanks for the kind words! I don't know if my teaching style would translate well to Coursera or Udacity. My classes tend to be very interactive. Assuming I recorded in front of a live class, some of that would come across. But, it would l
15. 75.▲
    by mattmight 14y ago

    I love the "reimplement the standard library" approach to learning a programming language. When I learned C and Unix, the instructor had us reimplement libs like string.h and stdio.h, command line tools like date, ls and cut and then build
16. 76.▲
    by mattmight 14y ago

    You're absolutely right that the end of the article is a hair's breadth away from monads. In fact, monads were secretly used throughout the article in the form of the comprehension notation (which desugars to the List monad). There's also a
17. 77.▲
    by mattmight 14y ago

    Stay tuned. That's a major topic in my compilers class, and I'll likely write a post on that as well. In the meantime, I recommend you check out "Scrap Your Boilerplate" in Haskell.
18. 78.▲
    by mattmight 14y ago

    You're right: If I were to redo the list, I'd probably move backup to #1 just for pragmatism. I had my first catastrophic hard drive failure in July, and I was glad I hadn't waited until August to start backing up.
19. 79.▲
    by mattmight 14y ago

    Great idea! I have small kids, so we never go to movies in theaters any more. I'd happily use this service if it provided Rental/DVD/Netflix/iTunes availability reminders.
20. 80.▲
    by mattmight 14y ago

    Right. It works for the register language with infinite precision integers. If you want it to work for C, you'll have to redefine the abstractions of addition and multiplication (and every other operation) appropriately. You'll also have to
21. 81.▲
    by mattmight 14y ago

    N-Glycanase is responsible for removing N-linked glycans from misfolded glycoproteins.
22. 82.▲
    by mattmight 14y ago

    I can't believe this needs stating, but the result of the exome sequencing implies that Bertrand is my son (with a certainty higher than any conceivable paternity test). And, to be clear, I never doubted for one second that he was mine.
23. 83.▲
    by mattmight 14y ago

    We're contacting Genzyme via friends of friends. Your question is valid. I wouldn't expect Genzyme to do much unless there's profit (or at least little cost) involved. Fortunately, Genzyme might not need to do much, since the enzyme is alr
24. 84.▲
    by mattmight 14y ago

    This comment rings too true. Most doctors quickly realize that they're outgunned when my wife and I start talking about our son. We have a lot more luck with PhDs than MDs.
25. 85.▲
    by mattmight 14y ago

    Wow! This is fascinating. Thank you so much for the pointers! Are you a grad student/postdoc/faculty?
26. 86.▲
    by mattmight 14y ago

    When we decided to have a second child, we'd ruled out every existing disorder that could possibly explain him. After consultation with our medical team, they concurred that a de novo mutation for Bertrand was a strong possibility. And, in
27. 87.▲
    by mattmight 14y ago

    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. Duk
28. 88.▲
    by mattmight 14y ago

    Thanks for sharing! Becoming a parent is an awesome experience--one I wouldn't trade for anything. I can still remember time freezing the moment each of my kids was born. I wish you, your wife and your little one the best.
29. 89.▲
    by mattmight 14y ago

    Thanks for the kind words! My wife updates his progress regularly here: http://overcomingmovementdisorder.blogspot.com/ The blog is oddly titled now, since we named it back when he was 8 months old.
30. 90.▲
    by mattmight 14y ago

    Sadly, since he's four and a half, "normal" is probably too much to expect. But, if we can stop the seizures, he might be able to start learning. He advanced very rapidly during the two month break from seizures that he got from ACTH. If we