​​​KIF1A ​​
KIF1A-related disorder is an extremely rare genetic disease caused by a mutation in the KIF1A gene. KIF1A is a molecular motor protein vital to brain function. Mutations in KIF1A cause a neurodegenerative disorder with a progressive course. The disease is associated with cognitive impairment, cerebellar atrophy, ataxia, spastic paraplegia, optic nerve atrophy and epilepsy. KIF1A-related disorder is a new disease, and research is rapidly underway to discover treatment. Every day we are closer to understanding KIF1A and how brain function is disrupted by mutations in the gene. We have an urgent need to support ongoing research leading to the discovery medicine.


Current Research 

  • We have a rapid increase in newly diagnosed patients due to exome sequencing. 
  • ​Possible mechanism for some mutations may be a dominant negative.
  • One mouse model available.
  • Additional mouse models currently in production at The Jackson Laboratory including conditional mutations.
  • Human iPSCs in production.
  • Robust patient registry available with ability to recontact families.  
  • Extremely engaged family group.
  • All resources freely available to the research community.


Dr. Wendy Chung addresses the urgent need for accelerated KIF1A ​research

RESEARCH

KIF1A

KIF1A.ORG is a 501(c)(3) nonprofit organization


To connect with a member of the KIF1A research team please email KIF1Afoundation@gmail.com. 

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