KIF1A.ORG’s 15th Research Roundtable meeting, “2022 Goals/Updates from KIF1A.ORG + From structure to patient perspective: an exploration of common KIF1A variants – part 2 ” was presented by Dr. Dominique Lessard, Chief Science Officer of KIF1A.ORG.






To kick off our first Research Roundtable meeting of 2022, we presented a two-part meeting for the KIF1A Research Network. In this meeting, we aimed to 1) communicate goals and updates from KIF1A.ORG and 2) revisit a past meeting format referred to as “From structure to patient perspective: an exploration of common KIF1A variants – part 2”.

Meeting Goals

  • Communicate goals and updates from KIF1A.ORG
    • Updates on the KIF1A.ORG team
    • Updates from our community
    • Review KIF1A Research Network growth, resources, and 2022 goals
  • Build on recent Research Roundtable presentations
    • After positive feedback from our April 2021 Research Roundtable meeting, this month we are revisiting the “From structure to patient perspective” meeting format where we explore selected KIF1A variants from a structural level all the way up to the patient perspective. This meeting style allows us (KIF1A.ORG) to simultaneously communicate up-to-date science and the patient perspective in the same light.
  • Summarize our understanding of three reported KIF1A variants by addressing questions such as…
    • Where do these variants reside in the KIF1A structure?
    • What do we know about the functional implications of these variants across multiple scales?
  • Communicate the patient and family perspective of each variant from consenting members of our KIF1A/KAND community


2022 Goals/Updates from KIF1A.ORG

  • We opened the first part of our meeting by introducing Dr. Dylan Verden, KIF1A.ORG’s Research Engagement Director! We also updated the Research Network on the current KIF1A.ORG team and board members.
  • Next, we took a moment to recognize and remember community members we have lost in 2021. We also highlighted our #ThisIsKIF1A social media campaign to help communicate the tough reality that our relentless community members live every day.
  • We also presented updates on both community and Research Network growth, breaking it down by key demographics.
  • Lastly, we reviewed our current Tools for Development available to the Research Network.

“From structure to patient perspective: an exploration of common KIF1A variants – part 2”

  • We opened the second part of our meeting by doing a brief overview of KIF1A and KAND basics and reviewing major findings from the first version of our “From structure to patient perspective” meeting. As this meeting had many new Research Network members, especially new members from the biotech and industry world, we wanted to make sure everyone was on the same page before diving into the heart of the meeting.
  • Next up in this presentation we featured three KIF1A variants that illustrated a range of KAND severity and KIF1A protein dysfunction.
  • For each variant, we then connected multiple layers of information about the impact of the variant from a scientific level to the patient/family experience.
    • On the science side, we started by reviewing the smallest, most microscopic level of understanding we have about each variant. We then built upon this information by reviewing information about each variant with higher and higher complexity until we ultimately reached the clinical level of understanding.
    • Next, we finished reviewing each variant by highlighting the patient perspective through images, videos, and clinical and life experiences from our KAND community.
  • We wrapped up the presentation by highlighting several different quotes from our KAND community members. Importantly, these quotes communicated the impact of these KAND variants on individuals and their families as well as the potential for treatment and cures with work spearheaded by the KIF1A Research Network.

Main Takeaways

  • 2021 was a year of remarkable growth for the KIF1A.ORG community and the KIF1A Research Network. A big focus for 2022 will be to support and manage the growth from 2021 while continuing to welcome new members into the community. We are especially eager to strengthen clinical engagement with the Research Network.
  • The “From structure to patient perspective” meeting format continues to be a powerful way to communicate the important intersection of science and patient voices to our KIF1A Research Network.
  • Patient and family perspectives are POWERFUL. Researchers were moved and empowered by your stories.

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