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


​​​KAND ​​
KIF1A Associated Neurological Disorder (KAND) is an extremely rare genetic disease caused by a change 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.

Developing treatment options for children living with KAND is within reach. KIF1A research is rapidly underway at the Chung Lab for Human Genetics and Precision Medicine at Columbia University. Every dollar donated to KIF1A.ORG supports this work.

Current Research 

  • We have a rapid increase in newly diagnosed patients due to exome sequencing. 
  • ​Mechanism for KIF1A mutations is a gain-of-function.
  • 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, including pharma and biotech.