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 100 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 local 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. Wendy Chung, MD, PhD and her team work closely with the foundation to understand the needs of every KIF1A family. This team has a detailed clinical registry and is currently working to discover treatment for KIF1A. If you have received clinical 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 clinical confirmation of a mutation in KIF1A. If you have been told you need clinical 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, send an email to: KIF1Afoundation@gmail.com or fill out the form below.