KIF1A.ORG exists to welcome patients and families into a supportive community with resources and information. If you or a loved one was recently diagnosed with a genetic mutation in KIF1A, here are a few immediate things you need to know.
1) You are not alone.
There are over 300 families around the world with reported disease-causing variants in the KIF1A gene. All of them are members of our community. Please reach out by completing the form at the bottom of this page, and we will get right back with you to answer questions, provide information, connect you with families and offer support.
We also have a private family support group on Facebook. Send a request to join.
2) We are discovering treatment and you are a core member of the team.
Our foundation supports extensive research at the Chung Laboratory at Columbia University Medical Center in New York City. Wendy Chung, MD, PhD and her team works closely with KIF1A.ORG to understand the needs of every family affected by mutations in the KIF1A gene. This team has a detailed KIF1A clinical registry and natural history study, and is currently working to discover treatment for KIF1A Associated Neurological Disorder (KAND).
You can advance KIF1A research by enrolling in the natural history study. Please visit our Natural History Study page to learn more.
Chung Lab researchers and clinicians can tell you about our research and help answer any medical-related questions you have.
3) We’re learning more about this disorder every day.
KAND is a neurodegenerative disorder with a wide range of symptoms and severity. No two patients are affected the same way. Still, there is much we have learned from one another.
Many families do not have access to genetic testing confirming a mutation in KIF1A. If you have been told you need genetic testing and your insurance will not cover the test, contact us.
To connect with our community, please fill out the form below.