Announcements, Research Updates


CAMSAP1 Research Update

🎉 Pardon the long post ahead, but we have a very exciting CAMSAP1 research update regarding advancements made studying Landon’s mutation on the CAMSAP1 gene 🎉 

It is hard to believe some days that our organization was founded just over 2 years ago in June 2018. We have had triumphs and setbacks all in the name of finding a cure for our sweet boy.  This past week, our colleagues in the United Kingdom 🇬🇧 conveyed that they are successfully moving forward with the CAMSAP1 research and are actively working on a few studies.

One study taking place involves analyzing the induced pluripotent stem cells (iPSC) that we helped to fund and develop at Washington University School of Medicine in St. Louis. There is a great deal of work to be done firstly to understand more about the function of CAMSAP1 inside cells, so medical researchers can understand the effects of losing the function of this molecule. To do this, researchers are using high powered microscopes 🔬 and molecular techniques to look inside cells grown in the lab and compare molecular processes in iPSC cells from a patient vs unaffected iPSCs cells. This will identify which cellular processes important for brain 🧠 development have been impaired by the genetic alterations in CAMSAP1 in patients. (Remember, Landon and the other children identified with CAMSAP1 mutations each have multiple brain malformations.)

Using cutting edge genetic techniques, they have also ‘cloned’ the normal healthy CAMSAP1 gene from the human genome and can insert it into patient iPSC cells. The researchers are now looking to see if inserting 💉 the healthy copy of the CAMSAP1 gene into patient cells will improve the cellular functions that have been affected by the patient’s CAMSAP1 gene alterations. They are also able to ‘clone’ versions of CAMSAP1 in which they have inserted the genetic alterations that they found in CAMSAP1 patients. This will allow them to more precisely study how the specific patient CAMSAP1 alterations affect CAMSAP1 function, and how CAMSAP1 molecular processes are altered. Ultimately our hope 🙏 is that once much more is known about CAMSAP1 gene function, it may be possible to design new ways to treat certain aspects of the condition.

EXCITEDLY, we will have additional updates regarding the CAMSAP1 mouse 🐭 !  Provided the genetic alterations have worked properly, we should know more in the coming months…

– Upcoming Fundraising Event Info –

In partnership with Happy 2 Give, we would like to invite you to play in the 13th Annual “Happy Gilmore Day” on Saturday, July 25th. There are still openings at the “Waterbury Open” hosted at Eagle Springs Golf Course in Florissant, MO. Price includes 18 holes of golf, golf cart, and a koozie for each golfer. Click here for more info

Lastly, in the interest of safety given the pandemic, we are working hard to finalize details for our 3rd annual “A Night at the Mouse Races” as a Virtual Fundraiser.  Stay tuned as there will only be 500 opportunities available for a chance to win 💰 $25,000!

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