๐๐ก๐ ๐๐ฆ๐๐ซ๐ข๐๐๐ง ๐๐จ๐ฎ๐ซ๐ง๐๐ฅ ๐จ๐ ๐๐ฎ๐ฆ๐๐ง ๐๐๐ง๐๐ญ๐ข๐๐ฌ ๐๐๐๐จ๐ ๐ง๐ข๐ณ๐๐ฌ ๐๐๐๐๐๐๐ (๐๐ง๐ ๐๐๐ง๐๐จ๐งโ๐ฌ ๐๐๐๐ ๐ฎ๐ ๐ ๐จ๐ฎ๐ง๐๐๐ญ๐ข๐จ๐ง!) "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!
Category: Research Updates
Our CAMSAP1 Families
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 Progress Update
RESEARCH UPDATE "To know how to wait is the GREAT SECRET of SUCCESS" - Joseph De MaistreIn In February 2018, we initially received Landonโs whole exome genetic sequencing test results.… Continue reading Research Progress Update
CAMSAP1 RESEARCH UPDATE!
๐ Pardon the long post ahead, but we have a very exciting CAMSAP1 research update regarding advancements made studying Landonโs mutation on the CAMSAP1 gene ๐
Rare Disease Day: Great News + Awareness
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
