๐๐ก๐ย ๐๐ฆ๐๐ซ๐ข๐๐๐งย ๐๐จ๐ฎ๐ซ๐ง๐๐ฅย ๐จ๐ย ๐๐ฎ๐ฆ๐๐งย ๐๐๐ง๐๐ญ๐ข๐๐ฌย ๐๐๐๐จ๐ ๐ง๐ข๐ณ๐๐ฌย ๐๐๐๐๐๐๐ย (๐๐ง๐ย ๐๐๐ง๐๐จ๐งโ๐ฌ ๐๐๐๐ ๐ฎ๐ย ๐ ๐จ๐ฎ๐ง๐๐๐ญ๐ข๐จ๐ง!)
โThere is nothing you can do about it. Weโll revisit this in 2 years. Try to have a good rest of your day.โ โ 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 readingโฆ
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, Landonโs League Foundation is also recognized in the acknowledgements (peep the author list as well)!!!
Thank you to each of you โ 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
