#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
The Neuronal Kinesin UNC-104/KIF1A Is a Key Regulator of Synaptic Aging and Insulin Signaling-Regulated Memory
KAND is commonly described as a rare neurodegenerative disorder because dysfunctional KIF1A results in neuronal loss. But neurodegeneration is also a feature of a condition that’s common to all of us: aging. One way we can learn about KIF1A’s impact on neuronal function is by understanding how KIF1A is regulated over the lifespan of an organism.
In this week’s featured article, researchers studied aging C. elegans worms while observing and manipulating unc-104 (the worm version of KIF1A). As worms age, their movement decreases as their neuromuscular junctions (synapses between neurons and muscles) deteriorate. The authors found that unc-104 expression decreased at these advanced ages, which was correlated with synaptic cargo mislocalization. Worms with mutant unc-104 had even worse movement, a deficit that became worse with aging. This correlated with recordings of motor neuron activity – as animals aged, their neurons fired less frequently and with less amplitude, which could be made worse with unc-104 mutations, and improved with unc-104 overexpression. Similarly, unc-104 overexpression improved learning and memory deficits experienced by aging worms. These findings provide an example of declining KIF1A function during healthy aging, and evidence for KIF1A’s role in maintaining circuit function over time.
Rare Roundup
Unlocking sociocultural and community factors for the global adoption of genomic medicine
As with many emerging technologies, genetic screening and therapy represent huge potential to improve live, but this potential is limited by access to these tools. While rare genetic diseases are a global phenomenon whose incidence are likely underestimated, their identification and treatment can vary widely from country to country due to financial and cultural factors. A recent position statement published in Orphanet explores current non-medical barriers to implementing genomic medicine across the world, as well as education-centered solutions. We’re especially proud to see KIF1A.ORG Founder and Board Chair, Luke Rosen, as a contributing author to this paper. These discussions are crucial for broadening our efforts to support global communities sharing the burden of rare diseases.
The Hill Hosts Improving Rare Disease Diagnostics & Care Event
This Friday in the U.S. the Hill hosted lawmakers, regulatory officials, doctors, and patient advocates in a two-hour event on the challenges and opportunities facing rare disease diagnosis, care, and cures. Discussed topics include the importance of classifying rare diseases in our healthcare system, how COVID vaccine development can serve as a model for more timely therapeutic pipelines, and ways to provide equitable access to diagnostics and treatments to underprivileged populations. You can watch the full event below.