[HN Gopher] Bertrand Might: Life, legacy and next steps
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       Bertrand Might: Life, legacy and next steps
        
       Author : teslabox
       Score  : 46 points
       Date   : 2021-01-21 14:22 UTC (8 hours ago)
        
 (HTM) web link (bertrand.might.net)
 (TXT) w3m dump (bertrand.might.net)
        
       | teslabox wrote:
       | Matt.Might.net has had many submissions to HN [1]. Professor
       | Might pivoted from CS to medicine on account of his family's
       | success figuring out Bertrand Might's (their first-born son)
       | medical problem. Further context for this link is provided in HN-
       | moderator dang's comment on a 2018 submission about the family's
       | efforts to improve diagnosis and treatment for rare diseases:
       | https://news.ycombinator.com/item?id=17962575
       | 
       | I read Cristina and Matt Might's blog posts [2] in 2010, when
       | they were in the midst of their search for a diagnosis for their
       | son. In 2012 they determined [3] Bertrand had a glycolysation
       | disorder caused by inheriting two malformed copies of the NGLY1
       | gene [4] [5]. The family moved from Utah to Alabama for the
       | University of Alabama's medical school [6], and probably also for
       | the change of weather (Utah: substantial snowfall every winter.
       | Birmingham, Alabama: 1 inch snow/year). They eventually decided
       | the odds of their having a second child with Bertrand's NGLY1
       | disorder were acceptably low; their other two children are not
       | affected by Bertrand's genetic condition.
       | 
       | Bertrand Might suddenly passed away in late October 2020, not
       | quite 13 years old.
       | 
       | ***
       | 
       | Growing up is like getting to the Moon and back. Most people make
       | it to adulthood, but we all need help getting there. Parents are
       | our Mission Control. Matt and Cristina found themselves in an
       | Apollo 13 scenario [7] -- "Houston, we have a problem" -- soon
       | after Bertrand's birth. One of Bertrand's symptoms was lack of
       | tears. Matt posted a writeup after they pinpointed the genetic
       | cause of Bertrand's condition: "My Son's Killer" [3].
       | 
       | Matt added 'precision medicine' to his undertakings. They rose to
       | their occasion, found their answers and almost had Bertrand back
       | to Earth ("A significant gene therapy trial is on the horizon"
       | [8]). Suddenly losing their son is tough (but not entirely
       | unexpected), as it is for all parents who outlive their progeny.
       | 
       | My condolences to the family.
       | 
       | ***
       | 
       | [This is a moderator-initiated repost of my November 2020
       | submission.]
       | 
       | [1] https://news.ycombinator.com/from?site=might.net
       | 
       | [2] http://www.overcomingmovementdisorder.com/
       | 
       | [3] http://matt.might.net/articles/my-sons-killer/
       | 
       | [4] https://en.wikipedia.org/wiki/NGLY1_deficiency and
       | https://en.wikipedia.org/wiki/NGLY1#Clinical_significance
       | (Bertrand Might was the 2012 patient mentioned in this section --
       | references [40] and [46][47][48]).
       | 
       | [5] https://www.ngly1.org/
       | 
       | [6] https://www.uab.edu/medicine/pmi/matt-might
       | 
       | [7] https://en.wikipedia.org/wiki/Apollo_13
       | 
       | [8] http://bertrand.might.net/#glycocauses
        
       | mattmight wrote:
       | Bertrand's father here. I'm humbled to see his page show up on
       | HN.
       | 
       | HN was one of the sites that first picked up Bertrand's story
       | years ago and it played a big role is several of the events that
       | followed, such as when he was confirmed to be the first and
       | (then) only patient in the world with his ultra-rare genetic
       | disorder.
       | 
       | The subsequent explosion on social media led to the discovery of
       | other patients; to an acceleration of the science; to the
       | development of treatments; to my pivot from academic computer
       | science to precision medicine; to working at The White House to
       | launch President Obama's Precision Medicine Initiative.
       | 
       | When Bertrand passed away unexpectedly in October, I've thought
       | long and hard about how to ensure he leaves behind an active
       | legacy.
       | 
       | Toward that end, bringing more computer science and computer
       | scientists into medicine is one of my goals, and as a first step
       | toward that I published a lengthy (living) draft on his site that
       | explains the step by step process that Bertrand taught me for
       | doing precision medicine:
       | 
       | http://bertrand.might.net/articles/algorithm-for-precision-m...
        
         | keyanp wrote:
         | My condolences to your family Matt.
         | 
         | > Toward that end, bringing more computer science and computer
         | scientists into medicine is one of my goals
         | 
         | Besides donating to the appropriate organizations, do you have
         | suggestions for if/how software engineers can contribute to
         | this cause? Are there open source projects in need of
         | contributors or notable organizations that one could work for?
         | Perhaps even a way for technical folks with biology backgrounds
         | to get in touch with and help non-technical families navigate
         | all the jargon?
        
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       (page generated 2021-01-21 23:01 UTC)