KIF1A.ORG hosts quarterly Family Community Calls to connect with one another, to discuss topics impacting our community and share updates. Our next call will take place in January 2022. If you have any questions or want more information, reach out to us via email at or join our private family support group online.

Updates from Kat

  • We’re hoping to host an in-person 2022 KAND Family & Scientific Engagement Conference in July/August in New York City, but we know COVID and travel challenges make it difficult for us and attendees to plan ahead. We will have a hybrid (in-person and virtual option) or virtual conference depending on how the situation evolves and if funding is secured to host an in-person event.
  • If your family wants to connect with other families affected by the same KIF1A variant, please contact us at to ask about joining our Family Directory and Variant List. We also keep a de-identified list of all known KIF1A variants so the scientific community can better understand the scope of KIF1A variants as we work to discover treatments.
  • Reminder: Chung Lab at Columbia University launched the annual KIF1A Natural History Study survey for families who have been enrolled in the study for at least 6 months. Check your email (including your junk folder!) for a link to your personalized survey. Email us at if you have any questions.
  • Fundraising Updates
    • So far this year, we’ve raised $650,000 USD to advance KIF1A research and therapeutic development, support families, and keep our operations running. This is simply incredible.
    • We’ve had generous gifts from family-led fundraising efforts, including community events and birthday fundraisers on Facebook. Every single fundraiser and donation makes a significant impact on our mission. Every dollar (or Euro, or Peso, etc.) raised from online donations and fundraisers goes directly to research. We have special fundraisers and donors who make gifts to support patients and families enduring a hospital stay or recovering from an injury or loss. Grant funding and gifts from private donors continue to fund our operations, such as staff, our website, postage for donor acknowledgement letters, Zoom subscription, etc.
    • We’ve been invited to apply for a $150,000 grant from the Chan Zuckerberg Initiative to continue funding our capacity and operations.
    • Our goal for the rest of 2021: Raise $350,000 for research and therapeutic development.
    • We are moving the annual Superhero Challenge for a Cure fundraiser that we did in October 2020 to July/August 2022.
    • This year we are going ALL IN on #GivingTuesday, a global crowdfunding movement on November 30, 2021. Look for resources from KIF1A.ORG to get involved! Collectively, I KNOW we can reach our fundraising goal!
    • As part of our participation in the Chan Zuckerberg Initiative Rare As One Network, we’re working with fundraising consultants at no charge to the organization to help us plan for #GivingTuesday and an End of Year campaign.

Updates from Dr. Dom

  • We welcomed former 2021 summer intern Michelle Tao as a Therapeutic Development Associate to the KIF1A.ORG team! Michelle’s intern project focused on the scalability of rare disease treatment or how we can make rare disease treatment accessible and effective as a large-scale treatment strategy. Michelle comes with a unique background in finance and is working on her Master’s in Biotechnology at Columbia University. Her strengths and impact to the KIF1A.ORG team were immediately apparent, and we’re grateful that Michelle is continuing to be part of the team!
  • We created a new Research Engagement Director position with support from grants and private donations. This person will primarily work with me, and will play a huge role in managing and communicating with our Research Network (RN) and all RN meetings, events and initiatives.
    • The RN is now over 100 members of our scientific community. For reference, when we started this network last summer, it was only 14 people. With rapid growth comes a great need for more help managing to make sure our RN is as supported and engaged as possible!
    • This person will also be heavily involved in our scientific communications strategy across all stakeholder groups, including regular updates to the family community about our progress toward treatments.
  • We had a great kick-off call with our new partner, NeuCyte, a contract research organization that we hired to launch KIF1A.ORG’s Treatment Accelerator Program. You can read background about this initiative here and NeuCyte here.
    • The goal of TAP is to create an industrialized and centralized screening platform to test potential therapeutics in pre-clinical KAND models. In other words, we are creating a one stop shop where our collaborators can come to us with potential therapeutic drugs or a specific technique, and we can run these compounds through a series of standardized and reproducible experiments to help us understand the impact of these compounds in different KAND model systems, such as patient-derived cell lines.
    • First steps of this project that are currently ongoing involve taking cells that have been isolated from KAND patients, and turning these cells into neurons. This is cutting edge and will give us some much needed information. What do these neurons look like? How are they behaving compared to neurons that do not have KIF1A mutations? How are they functioning?
    • Once we have these answers we will then work with NeuCyte to develop a drug screening program to test specific compounds.
  • Rarebase, a public benefit biotech company partnering with KIF1A.ORG, is making great progress with their ASO (antisense oligonucleotide) that is designed to reduce pathological axonal degeneration. You can read background information on Rarebase here.
    • An ASO is a synthetic, or lab made, strand of genetic material that, when administered to a system or part of body, can influence how certain proteins or genes are regulated and expressed.
    • Axonal degeneration can be thought of as damage to a specific part of our nerve cells called the axon. The axons are very important for transmitting signals and materials within and in between nerve cells, so when these axons become damaged (like what we see in KAND) this can lead to symptoms (numbness, pain, vision, muscle control, any process that involved nerves).
    • We got an update from their team at the beginning of the month showing promise of their therapeutic product in a test system and they are now moving their work into a KAND system.
  • The CEO of BioLoomics, another biotech partner of KIF1A.ORG, spoke with Dr. Dom this week and they have created all of the KIF1A materials that they need to conduct their experiments. Experimentation and validation started on Thursday so stay tuned!