𝐓𝐡𝐞 𝐀𝐦𝐞𝐫𝐢𝐜𝐚𝐧 𝐉𝐨𝐮𝐫𝐧𝐚𝐥 𝐨𝐟 𝐇𝐮𝐦𝐚𝐧 𝐆𝐞𝐧𝐞𝐭𝐢𝐜𝐬 𝐑𝐞𝐜𝐨𝐠𝐧𝐢𝐳𝐞𝐬 𝐂𝐀𝐌𝐒𝐀𝐏𝟏 (𝐚𝐧𝐝 𝐋𝐚𝐧𝐝𝐨𝐧’𝐬 𝐋𝐞𝐚𝐠𝐮𝐞 𝐅𝐨𝐮𝐧𝐝𝐚𝐭𝐢𝐨𝐧!)
“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
2 thoughts on “CAMSAP1: Officially a Disease Gene!”
Thank you very much!