What a year! As families, scientists, doctors and our friends around the world navigated the challenges of 2022, the KIF1A.ORG community worked together to reach new heights. As this community grows, so does our army of advocates and supporters. We are so excited to highlight our proudest achievements and what refuels and restores our drive for 2023 and beyond. Together, we’re going to change the fate of KIF1A Associated Neurological Disorder.

We’re speeding right through 2023 with sustained traction on the road to therapeutic discovery because of YOU! Check out all we’ve been able to make happen…

Family Support Highlights

We may be rare, but we make a powerful impact. KIF1A.ORG recognizes strength is not always in numbers. Those who lead the way in the world of rare disease are those who are impacted each and every day. Our family network stretches far and wide, so wherever you may be, we are grateful for your commitment to strengthening and advancing our mission.

Over 162 new families from around the world joined our community since January 2022.

Family Resources

Families have been supported this year with resources to improve their daily lives and navigate KIF1A life. Below you’ll find a recap of some of the resources we’re most proud of.

Helping Hand: Our 2022 Helping Hand program offered financial assistance to KAND families so they could purchase medical equipment for their warrior. This program helped obtain wheelchairs for 2 KAND patients and a vibration therapy plate to help one patient with their circulation.

Coping and Family Boxes: We provide assistance to our families in a number of ways including sending Coping & Family Boxes when kids have an upcoming procedure or surgery, injury, or illness. These boxes help reduce stress for our superheroes and their families as well as promote family fun with the activities included.

Our relentless community is amazing, and always finds way to support each other through this unpredictable and often difficult journey.

KAND Clinician Directory: Trying to find a doctor? Our clinician directory is a resource when new families join our community or for those in need of recommended options within their region.

What Is KAND?: This short, 4-minute video helps families, doctors, teachers, friends and others understand KAND in plain language. Thank you to KIF1A.ORG volunteer, Grace Endy, for creating this helpful resource!

FAQ Webpage: Over the last several years, we’ve received questions many families want to know about KIF1A. You can find answers to many of these questions in one location! If you have a question you’d like to have added to the FAQ, contact us at impact@kif1a.org.

KAND and Spasticity: We created this resource to help families understand mechanisms of spasticity in KAND, including considerations between different treatment options.

#ScienceSaturday: Since January 2022, we have written over 70 #ScienceSaturday blog posts to share relevant and exciting scientific news with the KIF1A community.

#ThisIsKIF1A: Just as we’re informed by advances in KIF1A research, our clinical, academic, and industry partners learn from our family community, some of the world’s foremost experts in KAND. Your input informs our Research Network and guides us toward high impact studies aimed at improving the lives of patients.

Monthly Momentum: Whether it’s a new resource for families or a newly announced therapeutic development partner, you can catch all the major announcements from KIF1A.ORG on our blog.

To keep up with the progress in the new year, sign up for our monthly newsletter and emails!

2022 KAND Family and Scientific Engagement Conference: KIF1A.ORG hosted the 2022 KAND Family & Scientific Engagement Conference on August 13 to share the latest advancements in research and therapeutic development. You can watch the whole conference here.

We Remember

The cruel fate of KAND means our community doesn’t only celebrate progress and growth. We also experience unimaginable regression and loss. We will always remember the superheroes we have loved and lost. Our hearts are heavy thinking of the countless superheroes whose lives were ended too soon, whose names we may never know.

Research and Therapeutic Development Highlights

Until we find treatments and cures, our superheroes will continue to lose their hard-fought skills, abilities and even their lives. This is the fate of KAND unless we change it. With your support, KIF1A.ORG continues to bring together the expertise and innovation needed to rapidly discover treatments and cures for KAND.

Advancing Progress at the Chung Lab

Wendy Chung, MD, PhD, and her team at Columbia University Medical Center in New York City have been our leading partners since the founding of KIF1A.ORG in 2017. The Chung Lab spearheads a robust KAND program to better understand the disorder and discover treatments.

Natural History Study Update

Understanding KAND and the progression of the disease informs our path to treatment. In 2017, the Chung Lab launched the first and only global KIF1A Patient Registry and Natural History Study with funding from KIF1A.ORG. This is one of the most foundational tools needed to prepare for upcoming clinical trials so families, scientists and regulators can identify measurable improvements in KAND symptoms as the result of new treatments. It is essential for every KIF1A family to participate in this study for researchers to better understand the function of KIF1A and KAND symptoms so we can accelerate the path to better care and treatment. Learn more about the Natural History Study and the impact it has on future treatments.

In 2022, the Chung Lab expanded the Natural History Study with the KIF1A Outcome measures, Assessments, Longitudinal And endpoints (KOALA) Study: This is the largest standardized study of KAND clinical features ever performed, preparing us for clinical trials by establishing measurements of motor, cognitive, visual and other symptoms.

160+ patients are currently enrolled in the KIF1A Patient Registry and Natural History Study.

60+ patients have participated in, or are scheduled for, KOALA assessments.

KIF1A.ORG collaborators at Ovid provided a generous sponsorship to enable over 25 KAND families to travel for the KOALA Study.

EEG Study

Seizures are one of the most severe symptoms impacting KAND patients, but we don’t currently have a profile of the brain’s electrical activity in KAND. Electroencephalogram (EEG) recordings are often performed on a case-by-case basis, but to truly understand KIF1A and epilepsy, we must first collect EEG data from every patient and analyze it in a standardized way. This is why Drs. Jennifer Bain and Tristan Sands, neurologists at Columbia University, have launched the KAND EEG study to look for trends in electrical brain activity of KAND patients. This study could have multiple benefits, from improvement of our KAND model systems, identifying appropriate treatments, and the creation of biomarkers to diagnose KAND.

Project Updates

In addition to ongoing research at the Chung Lab and R&D collaborations (read about that below), KIF1A.ORG has funded strategic projects powered to rapidly develop treatment for KAND.

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Treatment Accelerator Program at NeuCyte

In August of 2021, KIF1A.ORG announced its partnership with NeuCyte to launch our very own Treatment Accelerator Program (TAP) for KAND therapeutic discovery. NeuCyte has used two patient-derived cell lines to model KAND features like epilepsy and axon growth defects. With these models established, we are preparing to test our first batch of small molecules drugs later this year!


KIF1A and KAND research at Murdoch Children’s Research Institute

In 2021, KIF1A.ORG provided pilot funding to the Murdoch Children’s Research Institute for the study of KAND using patient-derived stem cells. This group, led by Dr. Simran Kaur, Dr. Wendy Gold, and Dr. John Christodolou, has leveraged this funding into a 3-year, $750,000 federal grant. Dr. Kaur now oversees 5 KAND research projects that utilize our patient-derived cell lines to screen for small molecule therapeutics and test potential gene therapies.

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Collaboration Between Ovid and the Chung Lab

In June 2020 Ovid and the Chung Lab at Columbia University began a research partnership investigating KIF1A which will continue through 2023. In the last year, this team was hard at work exploring approaches to address mutant KIF1A protein, with the aim of discovering therapies that can hopefully treat multiple mutations. You can learn more in our Family Community Call and summary.

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Artificial Intelligence (AI) Drug Discovery with Gennerich Lab and Atomwise

Dr. Arne Gennerich and Dr. Hernando Sosa have been working with the AI drug discovery company Atomwise to utilize cryo-electron microscopy (cryo-EM) to improve our structural knowledge of the KIF1A protein and search for small molecule compounds to treat KAND. They have recently published a pre-print characterizing the structure of KIF1A’s motor domain with more precision than ever before, including the effects of the P305L mutation. This information will inform structure-based therapeutics that can be applied to our KAND models.

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“Evolution-in-a-Microscope” Platform at Bioloomics

In 2021, KIF1A.ORG announced our partnership with BioLoomics. Their “evolution-in-a-microscope” VariVolve Platform technology will build the high throughput drug discovery tools we need to accelerate the pace of discovery. As we work against the clock in our urgent mission, we are grateful to the team at BioLoomics for joining our efforts to bring treatment to this generation of people affected by KAND.

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Get to Know Our Research Network: 2022 KAND Interview Series

Want to learn more about current KIF1A and KAND research? In 2022 we hosted an interview series to ask Research Network about their projects and how they relate to our #relentless search for treatments and cures. Get to know our researchers before meeting them this August at our conference!

We’ve also been privileged to have 9 speakers share their research with us at Research Roundtables since January 2022, and you can find Research Roundtable Community Summaries in our blog.

Over 30 new members driving KIF1A research and therapeutic discovery joined our Research Network in 2022-2023, bringing us to a total of over 140 members!

Advocacy Highlights

Thank you to the families and advocates making every effort to spread awareness and share their stories. By using your voice, you help the world see the urgency of our mission and take action to cure KAND.


KIF1A Day: Translating Awareness into Action

Every year on April 28th, we celebrate KIF1A Day. It also happens to be International Superhero Day. That’s not a coincidence.

Money Raised for KIF1A Day; Help Them Fly!

Every year at the end of April, we celebrate KIF1A Day to honor our KAND patients by sharing their stories, pictures, and fundraising for a special project. This year, our goal was to help more KAND patients travel to New York City to participate in the KOALA research study! Participating in this research study is extremely important for our community collectively and for each warrior individually. However, traveling is expensive and prohibits many of our warriors from participating in this crucial research. Thanks to our relentless community, we were able to raise over $22,500 USD and lighten the financial burden for 10 KAND families!

Powering Our Mission

KIF1A.ORG exists to accelerate discovery of treatments for this generation of people affected by KAND. It’s a bold mission, but not impossible thanks to our relentless community.

We collaboratively raised over $550,000 USD to accelerate our mission in 2022.

Organizational Finances in 2022

In 2022, KIF1A.ORG started the year with $750,000 in the checking account. Collectively the organization brought in over $500,000 in donations and grant funding from the CZI Rare As One program. During the course of the year, the organization spent $1 million funding projects and supporting existing partners. We ended the year with a little over $250,000 in the checking account.

So far in 2023, we have used our remaining funds to support critical research at Columbia University, host the 2023 KAND Conference, and payroll expenses. Fundraising in the second half of 2023 will be a top priority to maintain our momentum and organizational support.

The KIF1A.ORG Team

With support from the Chan Zuckerberg Initiative’s Rare As One grant, KIF1A.ORG was able to expand our team of people dedicated to achieving our mission. As this funding came to a close at the end of 2022, we have focused on consolidating our efforts more efficiently. KIF1A.ORG currently employs one full-time staff member, Dr. Verden, and we are looking to expand our team moving forward!

KIF1A.ORG Leadership Team

As we close our eyes and reflect on the remarkable impact we’ve made this year, we hear the steady ticking of the KIF1A clock. We’re in a race against time to bring treatments and cures to KIF1A families before it’s too late.

No matter what your role is in our community, we thank you for joining our relentless mission. You’re making life-changing and life-saving impacts on countless superheroes today and in the future. Now let’s go make 2023 an even more monumental year!

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