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 200 families with reported disease-causing variants in the KIF1A gene. All of them are members of our community. Please reach out, we will get right back to you and answer questions, provide information, connect you with families and support you in every way possible.
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 the foundation 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 KAND. You can advance KIF1A research by enrolling in the natural history study. Please visit our Natural History Study page to learn more. If you have received a clinical or genetic diagnosis, please contact Lia Boyle at Columbia University Medical Center: firstname.lastname@example.org.
3) We can help confirm diagnosis.
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. We will make sure you get the genetic testing necessary to confirm your diagnosis of KIF1A Associated Neurological Disorder.
To connect with our community, please fill out the form below.