KIF1A-Associated Neurological Disorder (KAND) research program
Research area: Genomic Medicine > Brain and Mitochondrial
KIF1A-Associated Neurological Disorder or KAND is a severe and ultra-rare neurodegenerative disorder caused by one or more variants in the KIF1A gene.
Symptoms of KIF1A-Associated Neurological Disorder can present at birth or in early childhood and can affect the eyes, muscles and nerves.
KIF1A-Associated Neurological Disorder can also result in significant intellectual disability, development delay, wheelchair dependence at early age, blindness and drug-resistant seizures. As it is a progressive condition, KIF1A-Associated Neurological Disorder symptoms will worsen as a child gets older.
Symptoms of KIF1A-Associated Neurological Disorder can present at birth or in early childhood and can affect the eyes, muscles and nerves.
KIF1A-Associated Neurological Disorder can also result in significant intellectual disability, development...
Symptoms of KIF1A-Associated Neurological Disorder can present at birth or in early childhood and can affect the eyes, muscles and nerves.
KIF1A-Associated Neurological Disorder can also result in significant intellectual disability, development delay, wheelchair dependence at early age, blindness and drug-resistant seizures. As it is a progressive condition, KIF1A-Associated Neurological Disorder symptoms will worsen as a child gets older.
Overview
Around 600 children across the world are diagnosed with KIF1A-Associated Neurological Disorder. There is currently no cure for this ultra-rare condition and existing treatments are nonspecific and incomplete, resulting in a huge burden on affected families.
Murdoch Children's Research Institute (MCRI) is at the forefront of research aimed at accelerating the diagnosis and treatment of KIF1A-Associated Neurological Disorder in Australia. Our researchers are leveraging advanced genetic technologies to identify KIF1A variants more rapidly and accurately. By doing so, we aim to provide earlier and more precise diagnoses for affected individuals, enabling timely interventions and better management of the disorder.
We aim to improve the quality of life for children and families affected by KIF1A-Associated Neurological Disorder by advancing the understanding of the disease's biology, with the goal of developing effective treatments and enhancing long-term health outcomes.
MCRI is one of the few institutes in Australia with in-house capacity to create stem cell lines from an affected child, genetically edit these cell lines to correct the variant, and screen them to understand disease mechanisms and identify new treatment options.
Research goals
The KIF1A-Associated Neurological Disorder research program is co-designed with the KIF1A community and developed at MCRI to accelerate the diagnosis and treatment of the condition.
Short-term goals (1-2 years)
We’re investigating whether existing, approved drugs can help manage KIF1A-Associated Neurological Disorder symptoms. Our researchers will look at whether existing FDA approved drugs for other conditions could potentially help rescue KIF1A action in the brain of affected children.
Additionally, we are aiming to improve the quality of life of families by:
- Studying and improving speech and language in KIF1A-Associated Neurological Disorder individuals
- Understanding lived experiences of families
- Developing educational materials and creating awareness regarding KIF1A-Associated Neurological Disorder in our community
- Creating a network of researchers and clinicians with expertise in KIF1A-Associated Neurological Disorder in Australia
Medium-term goals (3-5 years)
Failing effective treatments in existing drugs, our researchers will work to develop new treatments and compounds to specifically target the dysfunctional protein that causes KAND.
Long-term goals (> 5 years)
The ultimate aim is to cure KIF1A-Associated Neurological Disorder through gene therapy. This therapy would see the ‘broken’ KIF1A replaced with a healthy version, helping to reverse the dementia-like symptoms and help young affected individuals gain back their motor skills, eyesight, and more.
KIF1A-Associated Neurological Disorder media
Patient stories
- Summer's story – Building a foundation of hope
- Gary Boyer's story – A Father's Journey
- Edward’s story – A smile that steals your heart
External media
- Get to Know Our Researchers: Dr. Simran Kaur
- Edward is one of 500 people with rare degenerative condition KAND. His family hopes US research can help
More information
Research team
KIF1A lead researcher
Dr Simran Kaur is an early career researcher and team leader at MCRI and University of Melbourne. Along with her team, Dr Kaur is leading Australia’s first KIF1A-Associated Neurological Disorder research program in collaboration with national and international collaborators including KIF1A.ORG and KIF1A.AU to accelerate research into the condition.
KIF1A research team
- Professor John Christodoulou
- Associate Professor Wendy Gold
- Tim Sikora
- Kelley Gao
- Grace Lin
Events
2023 KAND family and scientific engagement conference
2022 Virtual KAND family and scientific engagement conference
2021 KAND conference
Publications
- Kaur, S., Van Bergen, N. J., Verhey, K. J., Nowell, C. J., Budaitis, B., Yue, Y., Ellaway, C., Brunetti-Pierri, N., Cappuccio, G., Bruno, I., Boyle, L., Nigro, V., Torella, A., Roscioli, T., Cowley, M. J., Massey, S., Sonawane, R., Burton, M. D., Schonewolf-Greulich, B., Tümer, Z., … Christodoulou, J. (2020). Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A). Human mutation, 41(10), 1761–1774.
- Boyle, L., Rao, L., Kaur, S., Fan, X., Mebane, C., Hamm, L., Thornton, A., Ahrendsen, J. T., Anderson, M. P., Christodoulou, J., Gennerich, A., Shen, Y., & Chung, W. K. (2021). Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder. HGG advances, 2(2), 100026.
Contact us
Murdoch Children's Research Institute
The Royal Children's Hospital, 50 Flemington Road
Parkville, Victoria 3052 Australia
Dr Simran Kaur
Team Leader/ Senior Research Officer, Brain and Mitochondrial Research Group
Research Fellow, Faculty of Medicine, Dentistry and Health Sciences
Department of Paediatrics, The University of Melbourne
Email:
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