#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

KIF1A is kinetically tuned to be a super-engaging motor under hindering loads

KIF1A is often called a hyperprocessive motor—that is, KIF1A can move very quickly without cargo. However, kinesin movement may be resisted by cargo or microtubule modifications, raising the question of how KIF1A behaves when it’s resisted.

This week’s article is a preprint* by researchers, including KIF1A Research Network members at the Hancock Lab, investigating kinesin dynamics using optical tweezers. With optical tweezers, kinesins are bound to beads that are held in place by lasers, forcing the kinesin to pull harder than it would have to otherwise, or even disengage from the microtubule. This allows researchers to understand how much force a kinesin generates and how it adjusts to resistance.

By using different types of optical tweezers, the authors showed that KIF1A detaches from the microtubule under resistance, but it reassociates incredibly quickly—often within 2 milliseconds. This high rate of reengaging the microtubule may make KIF1A a more robust transporter when it encounters obstacles, which could play a role in its ability to transfer cargo along very long axons!

*What’s a preprint? Check out this #ScienceSaturday post to find out.

Learn more about optical tweezers!

Rare Roundup

Recommendations from the International Rare Diseases Research Consortium (IRDiRC) Working Group on methodologies to assess the impact of diagnoses and therapies on rare disease patients

The IRDiRC Working group recently published a paper discussing improving treatments for rare disease patients. In 2017 the IRDiRC set its 10-year goal to “Enable all people living with a rare disease to receive an accurate diagnosis, care, and available therapy within one year of coming to medical attention.” The authors acknowledge that in order for this goal to be met, there must be transparency about the impact of every step of the diagnostic and therapeutic journey on patients’ lives. They provide recommendations on information that should be assessed by clinicians, healthcare providers, and insurance companies to more comprehensively care for rare disease communities.

The Access to Rare Indications Act could be a game changer for millions of Americans

The Access to Rare Indications Act, introduced to Congress in late 2021, seeks to address a common challenge for rare disease patients —the use of off-label medications.

Because rare diseases often lack approved therapeutics, clinicians often rely on the use of drugs approved for other disorders to manage symptoms. This becomes prohibitive because off-label use is not always covered by insurance companies, increasing the economic burden on families. Covering off-label drug use for rare disease patients is a crucial step in making therapies more accessible.

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