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:
My wife and I were surprised and sorry when we heard Bertrand's passing last fall. It was a privilege getting to know your family first as neighbors and then as friends back in SLC. I was always humbled at seeing the effort that you and Christina put into moving heaven and earth out of your love for Bertrand.
Not everyone can say they've made a lasting positive impact on the world, but you and your family certainly have.
I've interacted with you on twitter before, but I wanted to thank you again for your work, it has impacted me greatly.
One of the first mathematics papers I ever read was your paper on Gödel hashes. Coming from a patchwork self-taught software background it opened my eyes to just how much more there was to CS than "writing code". So, so much more. I still have a copy in my desk! I had dropped out of the U of U's CS program, and this was the first thing that really made me question my decision.
I've also admired your work in with Bertrand and I'm hopeful at the legacy it will leave, and at the future of precision medicine.
I remember reading Bertrand’s story a few years ago. His struggle reached the UK, along with his many achievements and progress. Not many children of his age have such a global reach, especially for such a profound cause.
> 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?
It's an open source logical reasoning engine (read: 1960's AI) for drug repurposing that we deploy routinely to help patients.
There is always a need for better relationalization of biological data sets that feed such tools too.
For example, SemMedDB is really showing its age for NLP of the scientific literature and yet it is still astonishingly useful for helping patients even as is.
> Besides donating to the appropriate organizations, do you have suggestions for if/how software engineers can contribute to this cause?
There's a massive amount of stuff that CS people can do. For example, many protein features (signal peptides, GPI anchors, transmembrane domains, glycosylation sites, phosphorylation sites, E/R retention signals, etc.) can be modeled as formal languages or as probabilistic formal languages. Literally, that's what they are, amino acid codes.
In order to help people with rare diseases, it is very important to identify which variant is knocking off one of those features. In most cases, that's the cause. For example, haemophilia (which is the archetypal rare disease) arises due to a mutation that abolishes a signal peptide in either Factor VIII or Factor IX. Furthermore, it has to be done as quickly and as automatically as possible. Otherwise, it doesn't scale.
Most research funding agencies are sadly quite uninterested in rare diseases.
I had a look at your draft and, as someone working in a related field, I’m really impressed by its exhaustiveness. Thank you for sharing your expertise.
I often think back to your Quora answer when I feel like a failure, and I try to remember that we can focus and we can re-direct our lives.
All the best to you, your wife and your daughter.
I read Cristina and Matt Might's blog posts  in 2010, when they were in the midst of their search for a diagnosis for their son. In 2012 they determined  Bertrand had a glycolysation disorder caused by inheriting two malformed copies of the NGLY1 gene  . The family moved from Utah to Alabama for the University of Alabama's medical school , 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  -- "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" .
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" ). 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.]
 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  and ).