#ScienceSaturday posts share exciting scientific developments and educational resources with the KAND community. Each week, Dr. Dominique Lessard and Dr. Dylan Verden of KIF1A.ORG summarize newly published KIF1A-related research and highlight progress in rare disease research and therapeutic development.

KIF1A Research: From the Archives

Sub-cellular distribution of UNC-104(KIF1A) upon binding to adaptors as UNC-16(JIP3), DNC-1(DCTN1/Glued) and SYD-2(Liprin-α) in C. elegans neurons

As a motor protein, the most important function of KIF1A is that it delivers the right cargo to the right place in a neuron. But how does KIF1A know where the right place is? This week’s paper from 2011 highlights the role that the cargo itself plays in steering KIF1A toward (or away from) different cellular locations. Researchers investigated the localization of KIF1A when bound to three different cargo proteins, and found that each pairing led to KIF1A moving to different parts of the neuron. In addition, the binding of different cargo changed the dynamics of KIF1A movement. As we learn more about how different types of KIF1A cargo are important for neuronal function, understanding their effect on KIF1A movement and localization could be valuable for finding new therapeutic targets for symptoms of KAND.

Rare Roundup

Almost one billion children and adults with disabilities and older persons in need of assistive technology denied access, according to new report

Much of therapeutic development focuses on pharmaceutical cures and treatments, but for disabled and aging individuals, huge improvements in quality of life come from assistive technology—walkers, hearing aids, and speech-generating devices are only a few examples of life-changing tools that facilitate social and financial equity. However, a recent report from the World Health Organization (WHO) and the United Nations Children’s Fund (UNICEF) describes that over 1 billion people lack access to these technologies. Despite the benefits to individuals and communities, unaffordable out-of-pocket costs and a lack of awareness represent ongoing barriers to access. The report recommends improving education on the benefits of these tools, prioritizing patient-centered research and development, and investing in affordable distribution of assistive technologies.

SpineX Receives FDA Breakthrough Device Designation for SCiP

One step toward making assistive technology more affordable is creating tools that are noninvasive. Spinal cord stimulation can be a powerful tool to correct motor dysfunction in rare disease patients, facilitating proper movement in the short-term and potentially training the nervous system in the long-term. SpineX’s SCiP (Spinal Cord Innovation in Pediatrics) is a spinal cord neuromodulator that places electrodes on the skin over the spinal cord and hips, delivering noninvasive stimulation to the nervous system to promote natural walking behavior. SpineX has performed early feasibility studies in children with cerebral palsy. Earlier this month, the FDA provided SpineX with a breakthrough device designation, “a voluntary program for certain medical devices and device-led combination products that provide for more effective treatment or diagnosis of life-threatening or irreversibly debilitating diseases or conditions.”

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