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… Continue reading CAMSAP1: Officially a Disease Gene!
Meet Landon "Hello everybody, my name is Landon! In 2018, my family found out that both copies of my CAMSAP1 gene were mutated. I love being with my family and… Continue reading Our CAMSAP1 Families
RESEARCH UPDATE "To know how to wait is the GREAT SECRET of SUCCESS" - Joseph De MaistreIn In February 2018, we initially received Landon’s whole exome genetic sequencing test results.… Continue reading Research Progress 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 🎉
The presentation above was delivered and recorded at the Arya Foundation's 2020 Disability Awareness Convention on 02/23/2020. Complex topics like genetics are difficult to simplify. It is even more difficult… Continue reading Rare Disease Day: Great News + Awareness