Laura

Had a blast today giving a keynote at the 2023 International Symposium on Visual Computing, even remote isvc.net/wp-content/uploads/… As a bonus I did feature my favorite quote from meta connect: “all of this technology, it only matters if you’re wearing the glasses” - Li Chen Miller

this what it looks like taking time off from my awesome day job to attend an awesome gathering with my non-profit bffs and fellow board members (@jrandallallen) and the awesome people who believed in us at @CreatineInfo to drive research. Thanks #RareAsOne and @ChanZuckerberg

#RareAsOne has had so much impact already on helping us at @CreatineInfo. At this years gathering, @AllisonTMoore tells us how much it matters that clinical trials listen to the patient meaningful outcomes!

Well deserved Mar! And what a nice intro by @davedotluebke great start to #IEEEVR2022

Cheers to #RareDiseaseDay with a delightful cup of Rohans Research Blend. we celebrate the selfless community that comes together to help those impacted by rare diseases everywhere. Like our neighbor @FridayTea helping @CreatineInfo fundraise to treat Creatine deficiencies.

Being part of @cziscience #Rareasone network is a huge boost for our efforts to get more research and eventually treatments for Creatine deficiencies @CreatineInfo. We’ve grown so much in two years and this is only the beginning! Thanks RAO family! #StrongerTogether

Knowing nothing about protein comparison I could find at least a few tools to overlay two pdb files. rcsb.org/3d-view generates this nice overlaid image where the original SLC6A8 and the mutated don't look much like each other. Of course the orientation may be off

Ok so I get a pretty structure! First look seems kind of similar to the original SLC6A8 (alphafold.ebi.ac.uk/entry/P4…). Am I right? Does it mean my mutated gene has a chance of actually getting expressed? Is it highly unstable? #AlphaFold folks how do we rate proteins for stability?

Update: Crashed overnight after searching the genetic database so starting again. Even got the colab subscription :D. Pretty cool though how accessible it is to do something like this on my tiny Mac. ETA one hour to download prediction.

When you’re a rare disease parent you run #AlphaFold on a Wednesday evening for fun. Sure my son’s #slc6a8 mutation covers two transmembrane domains and I keep hearing the simulation won’t tell us much so why do it. W open science tools means I’m empowered to do it myself mwahaha