[HN Gopher] Bertrand Might: Life, legacy and next steps ___________________________________________________________________ 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? ___________________________________________________________________ (page generated 2021-01-21 23:01 UTC)