February 2021 Research Update
Sometimes I forget we launched Lightning and Love less than a year ago. And in that time we have made HUGE progress with our research and scientific partnerships. We have worked hard to put in place the resources needed to get answers and I know (I am willing it to happen) that this year will be a year of breakthroughs!
So here's what we have going on...
Last year, out of the kindness of an academic researchers heart, we were able to create a pro-bono Zebrafish model. The model was a first-generation CRISPR knockout...meaning that the researcher injected single-cell Zebrafish embryos with genetically-engineered "scissors" to effectively turn off the THAP12 gene, the gene that affects the girls. From this model we saw seizure activity and brain abnormalities on an MRI. A huge success! BUT, this kind of model isn't the most reliable. We chose it because it was fast, and could give us good preliminary data. But with the promising results we saw, we knew it was time to take the next steps. Drumroll please....Lightning and Love Foundation is officially funding its first academic research grant to create a multi-generational stable knockout Zebrafish line.
To translate....Zebrafish will be bred over time with the THAP12 gene turned-off so that we have a model that, without a doubt, has no THAP12 function. This level of stability will allow us to get more accurate and definitive EEG readings, MRI images, and even to potentially test drugs. Its about a 9 month process, but the process has started and we are on our way!
Another GREAT model to use for Rare Disease research is Mice. I still remember bouncing into the nursery where my mom and our home-health nurse sat taking care of Emma and Abby with a huge smile on my face almost screaming...."We're getting a mouse model"! THAP12 had been accepted into the Knockout Mouse Project as part of the International Phenotyping Mouse Consortium...phew what a mouthful. Basically...this program aims to model and phenotype every gene in a mouse to better understand genes that cause disease, and even genes that we know nothing about. They started the process of breeding two strains of mice...each that have one of their THAP12 genes knocked out (basically mice Mariah and Mark's, we each have one broken copy of our THAP12 genes). Well its FINALLY time to cross-breed these two strains starting in March. So hopefully, fingers crossed, by April we will have little mouse Emma and Abbys, who have BOTH copies of their THAP12 gene broken.
So....this year we will have two stable animal models to use in research. Mouse and Zebrafish! The possibilities are endless with these resources.
But thats not all....You may have noticed that I called both of these models "Knockouts". This just means that the THAP12 gene is completely turned off. This is much easier to do, and provides great data. BUT...it doesn't represent Emma and Abby 100%. Emma and Abby have something called a "Missense" variant...its just kind of confused. So it may kinda work, but mostly doesn't. So we also want to create a model that imitates the EXACT mutations that Emma and Abby share. So...drumroll again...we have decided to commit to funding a project of creating "humanized" mouse models that have specific mutations (rather than knockouts). ETA summer 2022, so something to look forward to next year!
And lastly, after months of (not-so-patiently) waiting, our Cell models are ready! Last year our whole family trekked to children's hospital and underwent super-scary (well maybe just for me) skin biopsies. These little chunks of our flesh were then sent to a lab to become Fibroblast and Lymphoblast models that can be used in labs for some very important research! Our models will soon head to multiple labs and may be able to provide us some critical information sooner than later.
Ok....if you've made it this far...well first and foremost, I'm impressed! But really, EVERYTHING that I have written about is happening because of our supporters and donors. While we had an incredibly kind researcher provide us a first Zebrafish model out of the goodness of his heart, that was just the first step...the proof we needed that we were on the right track. And now, we are pushing full steam ahead with SO. MUCH. HOPE....all thanks to the funding so generously given to our girls. I hope everyone who has given a single dollar, shopped any of our fundraisers, or shared our story...I hope you all feel your importance and our gratitude!
Stay tuned my friends, the best is yet to come! (Is that too cheesy??)