What is KIF1A/KAND?

KIF1A-Associated Neurological Disorder (KAND) 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.

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.

What is MCRI doing to help?

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.

Our 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 (over 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 (KAND) 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

• Health conditions caused by changes in the KIF1A gene
• Research Simplified with Dr Simranpreet Kaur and Professor John Christodoulou
• Breakthrough discovery in gene causing severe nerve conditions

KIF1A Lead Researcher

Dr Simran Kaur
Simran 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, Theme Director, Genomic Medicine, MCRI
• Associate Professor Wendy Gold, University of Sydney
• Tim Sikora, Research Assistant, Genomic Medicine, MCRI
• Kelley Gao, Research Assistant
• Grace Lin, Research Assistant, MCRI

2025 KAND conference in Boston

Dr. Simran Kaur from MCRI gives updates on her five pillars of KIF1A research. Recorded at the KIF1A.ORG Family and Scientific Conference on July 26, 2025.

2023 KAND Family & Scientific Engagement Conference

Dr Simran Kaur discusses the development of a KAND research program at MCRI, including patient-derived cellular models, small molecule drug screening, gene editing, and studies of patient speech and vision.

From the 2023 KAND Scientific and Family Engagement Conference, hosted by KIF1A.ORG.

2022 KAND Family & Scientific Engagement Conference

MCRI's Dr Simran Kaur and Wendy Gold, PhD, Associate Professor at the Children's Hospital at Westmead discuss their KAND research, patient-derived cells, and brain organoids.

Recorded 2022 Virtual KAND Family & Scientific Engagement Conference, brought to you by KIF1A.ORG.

MCRI's Dr Simran Kaur and Wendy Gold, PhD, Associate Professor talk to KIF1A-Associated Neurological Disorders advancing the therapeutic pipeline.

2021 KAND Conference

Dr Simran Kaur and Professor John Christodoulou, Director, Genomic Medicine at MCRI answers questions from the KAND community about their therapeutic update.

Publications

Morison LD, Vogel AP, Christodoulou J, Gold WA, Verden D, Chung WK, Braden R, Bredebusch J, Kaur S, Scheffer IE, Morgan AT. Understanding speech and language in KIF1A-associated neurological disorder. Eur J Hum Genet. 2025 May 16. doi: 10.1038/s41431-025-01867-0. Epub ahead of print. PMID: 40379967.

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:  show email address