Landon’s League Foundation: CAMSAP1 Research Update

02/22/2019

🎉 WE DID IT!!! 🎉

THE JACKSON LABORATORY HAS SUCCESSFULLY CREATED THE GENETIC KNOCKOUT CAMSAP1 MOUSE 🐭 MODEL!!!

Despite having zero guarantee that this endeavor would be successful when we began in June 2018, we remained cautiously optimistic, hopeful, and prayerful.  Our prayers have been answered!!!

Logistics are being finalized for the mice to arrive at the lab at Washington University in St. Louis School of Medicine in the upcoming days.

Additionally, we’ve initiated communication with the Genetics and Rare Diseases Center (GARD) within the National Institute of Health (NIH).  The representative was in awe at how quickly we’ve managed to get to this point and provided additional information/resources to help us progress.

So, why is this a big deal?  Drug/gene therapy developmental guidelines indicate that these steps need/should take place prior to beginning any sort of human drug trial:
1.    Cell knockout/rescue model: ✔️
2.    Small organism knockout/rescue model:  ✔️
3.    Rodent knockout/rescue model:  knockout successful ✔️, but pending rescue…

Going from here, the plan is to create/modify a virus that will serve as a vector to deliver the gene to millions of cells via a single injection 💉.

In our reflection back to 1 year ago (almost to the date), we’d like to share the most defeating words that were said to us:

“…we regret to inform you of this news about your child, but he has a gene mutation of his CAMSAP1 gene.  We don’t know what it does, nor has there been much research regarding the gene, but we’ll revisit this gene mutation in two years to see if anything has changed.  I’m so sorry. There really isn’t anything that you can do at this time.  Have a good rest of your day…”

Words cannot express our gratitude and love to each of you for your unwavering support and trust in us.

#LandonsLeague #CAMSAP1 #findacure #mousemodel #epilepsy #lissencephaly #smoothbrain