We’re excited to announce the official dates for our 2025 KAND Conference! Mark your calendars for July 25-26, 2025, and plan to join us in Boston. The KOALA study will also be available to KAND patients in the days leading up to the conference, on July 22, 23, and 24. More details will be shared soon, including links to reserve discounted hotel rooms, register for the event, and secure a spot in the KOALA study.

Visit our 2025 KAND Conference webpage for all the details, links, and information as it is available. Stay tuned for more!

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Upcoming Meetings & Events

*Times are Eastern Time Zone.

• Jul 22 – 24

  KOALA Study prior to KAND Conference

  The KOALA study will be available to an estimated 40 KAND patients in the days leading up to the conference, on July 22, 23, and…

  Tuesday, July 22, 2025 – Thursday, July 24, 2025 In-person
  Boston, Massachusetts, USA
• Jul 25 – 26

  2025 KAND Family & Scientific Engagement Conference

  We’re excited to announce the official dates for our 2025 KAND Conference! Mark your calendars for July 25-26, 2025, and plan to join us in…

  Friday, July 25, 2025 – Saturday, July 26, 2025 In-person
  Boston, Massachusetts, USA

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Dylan Verden’s Office Hours

Thank you to the families who have participated in Dylan Verden’s office hours. Your direct feedback is invaluable in guiding his work and strengthening collaboration within our research network to address our community’s symptoms and needs.

Coming up on Nov 7th, join Dr. Verden for open office hours to discuss any topics relating to KAND and KIF1A.ORG. For those willing to share, we are also looking for input on challenges related to bladder, bowel, and GI symptoms in KAND.

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n-Lorem Nano Rare Patient Colloquium 2024

We are deeply grateful to our partners at n-Lorem for the hope they continue to bring to our community. This year’s Patient Colloquium marked the foundation’s remarkable growth, expanding from treating 5 patients last year to over 15 patients today. Among them, 2 KAND patients are currently receiving treatment with KIF1A ASO-001, and 5 more KAND patients have been accepted to receive the same ASO. Additional KAND patients are also progressing through n-Lorem’s program for their own tailored ASO therapies, with plans for further expansion. We highly recommend viewing the recordings from this event for an insightful look at n-Lorem’s mission and our community’s role within it.

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Susannah Rosen: Year 2 of ASO treatment

You can tune into the recent podcast featuring a review of Susannah’s second year of ASO treatment, with insights from her father and KIF1A.ORG founder, Luke Rosen, alongside her neurologist, Dr. Jennifer Bain.

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Are your ASCEND surveys complete? Please check!!

We would like to remind all participants in the ASCEND study that some of you may have unfinished surveys that you may not be aware of. It’s important to ensure that all surveys are completed for the study to be as thorough and impactful as possible. We kindly ask that you check your survey link and survey queue to confirm that all required surveys have been completed and that you are up to date. Your participation and diligence are critical to the success of the study, and we greatly appreciate your time and effort in helping us gather this valuable data. This video linked below describes how you can check for unfinished surveys. Email Angie at Angie@kif1a.org with any questions.

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Research enrollment numbers

We added 13 additional patients and families to our Natural History Study last month!
We are deeply grateful for your participation and your invaluable contributions to advancing our research efforts.

We know that living with a rare disease can be an overwhelming and isolating journey. The daily challenges you face are not just physical but emotional, and the uncertainty of the future can be daunting. But there is a powerful way you can help change this—by becoming a part of our natural history study.

By enrolling in this online research study, you are not just a participant; you are a crucial partner in the fight to understand and ultimately find treatments for KAND. Your unique variant, experience, and data are invaluable to researchers working tirelessly to uncover the mysteries of this condition. No one else can represent you in this research, and we don’t want to leave anyone behind and unaccounted for.

If you or your loved one has a KIF1A variant, please consider enrolling in our natural history study. Be a part of this critical mission to advance research, bring awareness, and, most importantly, make a difference. To enroll, fill out this interest form and researchers at Boston Children’s Hospital will email you back with next steps. *Add this email to your contacts so emails don’t get lost in spam folders: ASCENDstudy@childrens.harvard.edu

Guardian Study on Newborn Screening published

Too many families affected by KAND know how exhausting the journey to an accurate diagnosis can be. The earlier a disease is identified the earlier a family can find appropriate treatment, which can save lives and have profound impacts on quality of life.

This October a research team led by KAND clinical champion Wendy Chung published a study of genetic sequencing in 4000 newborns to look for known genetic disorders, including 156 genes whose disorders had known treatment, and an optional panel of 99 epilepsy-associated genes. The screen used DNA from dried blood spots typically collected for newborn screening and identified mutations in 3.7% of participants, making a case that newborn sequencing is feasible and useful.

As our knowledge of rare diseases advances, making genetic sequencing available early and broadly is a moral imperative that can save families time, money, grief, uncertainty, and ultimately give them the best shot at the lives we all deserve. Thank you to Dr. Chung and all the guardians who made this possible.

WE NEED YOU.

Volunteers are the heart of our organization, and we couldn’t thrive without them!

We are currently seeking many positions. The time commitment of most volunteer roles is approximately 5 hours per week, with the possibility of additional hours as needed.

If you’re interested in learning more about how you can help, please look at our Volunteer webpage and email Angie at Angie@kif1a.org!

Last but not least…. FUNDING

With our next KAND Conference set for July 2025, we’re excited to kick off fundraising efforts to bring this invaluable event to life. Hosting a conference is costly, and we need the support of our community to make it happen.

Consider dedicating your birthday to KIF1A.ORG by starting a fundraiser on Facebook or GoFundMe. You could also dedicate your next 5K, half marathon, or marathon to raising funds.

There are countless simple and fun ways to get involved, and we need every family to contribute in any way they can. Every dollar counts, and with everyone’s participation, we can drive our collective mission forward and accelerate research toward a cure.