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KIF1A-Associated Neurological Disorder or KAND is a severe and rare neurodegenerative disorder caused by one or more variations in the KIF1A gene.
What is KAND?
KIF1A-Associated Neurological Disorder or KAND is a severe and rare neurodegenerative disorder caused by one or more variations in the KIF1A gene. This important gene produces a protein that is only expressed in brain cells (neurons) and is critical for the transportation of important substances necessary for neuronal survival and overall healthy brain function.
Symptoms can present at birth or in early childhood and can affect both the brain and the body, such as the eyes, muscles and nerves. Although KAND is a neurodegenerative disease, it does not affect any two people the same way and progression and severity varies. Much about KAND is yet to be understood, however, some of the common symptoms are intellectual disability, delays in reaching developmental milestones, diminished muscle tone, poor coordination, seizures, muscle stiffness, and reduced vision. As a progressive condition, symptoms will worsen with many children requiring the aid of a wheelchair.
At present, around 500 children globally have been diagnosed with KAND, but we think that this is greatly underestimated, due to a high number of individuals who are currently either without a diagnosis due to limited access to genetic testing or have been misdiagnosed with conditions such as cerebral palsy.
Why are we fundraising for KAND?
Currently, there are no specific treatments that reverse or halt KAND progression resulting in treatments that aim to alleviate symptoms. There is a critical need to improve our understanding of KAND and to identify targeted therapies for children suffering from this life-threatening disorder.
Dr Simranpreet Kaur, an early career researcher at MCRI, is leading Australia’s first KAND research program in collaboration with national and international collaborators including KIF1A.org to accelerate research into KAND. The team hopes to be able to develop effective treatments by understanding the biology behind KAND using stem cell-based models and finding key process in the cell that alters in response to the genetic mutations in the KIF1A gene.
These advances will improve long-term health outcomes for this vulnerable group of children, and may potentially offer unprecedented and life-changing opportunities for individuals and families affected by KAND and related disorders.
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