Mutations in the KIF1A gene cause a vital motor protein to break down. This is known as KIF1A Associated Neurological Disorder (KAND). There are over 80 different mutations identified on the KIF1A gene causing a heterogeneous disease with multiple symptoms associated with it. KAND is caused by “toxic-gain-of-function” mutations. In this type of defect, the gene takes on a new function that is harmful to the human body—the protein produced may interfere with cell functions, or may no longer be controllable by its normal regulatory partners, for instance. Many degenerative diseases of the brain are due to this type of mutation, including Huntington disease.
KIF1A.ORG exists to improve the quality of life of families affected by KIF1A Associated Neurological Disorder (KAND), and to relentlessly drive research initiatives leading to a cure. KAND is a rare and degenerative genetic disease. As a patient-focused foundation spearheaded by parents of children with KAND, they are here to connect and support every family affected by this disorder. Their mission is to drive research for a cure and work to improve the lives of those affected by KAND until we get there.
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