Research Updates

CAMSAP1: Officially a Disease Gene!

๐“๐ก๐ž ๐€๐ฆ๐ž๐ซ๐ข๐œ๐š๐ง ๐‰๐จ๐ฎ๐ซ๐ง๐š๐ฅ ๐จ๐Ÿ ๐‡๐ฎ๐ฆ๐š๐ง ๐†๐ž๐ง๐ž๐ญ๐ข๐œ๐ฌ ๐‘๐ž๐œ๐จ๐ ๐ง๐ข๐ณ๐ž๐ฌ ๐‚๐€๐Œ๐’๐€๐๐Ÿ (๐š๐ง๐ ๐‹๐š๐ง๐๐จ๐งโ€™๐ฌ ๐‹๐ž๐š๐ ๐ฎ๐ž ๐…๐จ๐ฎ๐ง๐๐š๐ญ๐ข๐จ๐ง!)

“There is nothing you can do about it. We’ll revisit this in 2 years. Try to have a good rest of your day.” – phone call from genetic to Joe & Lauren Walsh (02/2018).

After close to 4.5 years of fundraising, reading medical journal articles (to piece together the seemingly unrelated research), networking, collaborating, ZOOM call after ZOOM call, blood draws, trips to Washington University in St. Louis (with more ZOOM calls), email and email, writing, COVID setbacks, and more reading…

WE ARE ABSOLUTELY ECSTATIC TO ANNOUNCE THAT THE CAMSAP1 RESEARCH IS OFFICIALLY PUBLISHED!!!

Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder in the American Journal of Human Genetics highlights the function of CAMSAP1, the mouse model, analyses of the iPSCs from Landon and his parents, and, more importantly, recognizes CAMSAP1 as a disease-causing gene. The paper describes the phenotype of Landon as well as the other children affected by CAMSAP1.

Because of our contributions, Landon’s League Foundation is also recognized in the acknowledgements (peep the author list as well)!!!

Thank you to each of you – for believing in us and our mission, for sharing our story, for your support and your generosity. This is one giant step towards our goal, and it is just the beginning!

Here is the link to the article: https://authors.elsevier.com/sd/article/S0002-9297(22)00415-3

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