Reflecting on a Remarkable Year: KIF1A.ORG’s 2023 Annual Report

Dear KAND Community,

Let’s take a moment to reflect on the incredible journey we’ve shared in 2023. It was a year filled with challenges, triumphs, and moments of growth that have shaped the very fabric of our organization.

In our Year in Review, we invite you to join us on a retrospective journey through the milestones, achievements, and innovations that have defined KIF1A.ORG’s 2023. From hosting a conference to scientific projects and collaborations to the dedicated efforts of our team, this review encapsulates the relentless pursuit to accelerate treatments and a cure for all KAND warriors.

We extend our heartfelt gratitude to each member of the KAND community – our patients, families, employees, volunteers, partners, donors, and supporters. Your commitment and collaboration have been instrumental in our shared success.

With hope,

Angie Fuller, Director KIF1A.ORG

Research and Therapeutic Development

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 Research at the Chung Lab

Recent Move to Boston Children’s Hospital

Wendy Chung, MD, PhD, and her team 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. In February of 2023, Boston Children’s Hospital named Dr. Chung Chief of the Department of Pediatrics. In addition to her role as Chief of the Department of Pediatrics, Dr. Chung serves as the Mary Ellen Avery Professor at Harvard Medical School (HMS), and President of the Children’s Hospital Pediatric Associates. You can read more about Chung Lab and their move to BCH here and reach a team member by emailing

ASCEND Online and KOALA In-Person Natural History Study Updates

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. To learn about the latest findings from these studies, watch Dr. Chung’s KOALA and Natural History Update talk from our 2023 conference. It is essential for every KIF1A family to participate in these studies 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 ASCEND Online Natural History Study and the KOALA In-person Natural History Study and the impact these have on future treatments.

175+ patients are currently enrolled in the KIF1A Patient Registry and ASCEND Online Natural History Study.

60+ patients are currently enrolled in the KOALA In-person Natural History Study.

ASCEND and KOALA findings have been recently published, providing us with a more comprehensive understanding of KAND: Read the paper here!

KAND Epilepsy 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, launched the KAND Epilepsy 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. To learn more about epilepsy and seizures, watch Dr. Tristan Sands’ talk from our community call in 2023.


Antisense Oligonucleotides (ASOs)

Antisense Oligonucleotides (ASOs) specifically knock down expression of mutant KIF1A. These are applicable for patients with dominant negative and gain-of-function mutations where the mutant KIF1A interferes with the healthy version. Currently, Dr. Bain at Columbia University Medical Center in New York, NY is overseeing the first experimental use of an ASO in a KAND patient, Susannah Rosen. This N-of-1 experimental treatment was created by n-Lorem specifically for Susannah. To hear directly from Susannah and her family, check out the Rosen Family ASO talk from our 2023 conference.

“Handle” Approach to ASOs

ASOs are traditionally mutation-specific, but the Chung Lab has developed a “handle” approach that allows a single ASO to target patients with different mutations. To learn more about ASOs check out Dr. Wendy Chung’s talk from our 2023 conference, and to learn more about the handle approach, watch Dr. Michael Zuccaro’s talk. The first ASO developed by n-Lorem is now being used in a second KAND patient, Sloane, due to this “handle” approach. You can read about her journey and first dose in our blog.

Trail Blazing in Australia

International KAND Speech Study

Our new research network partners at the Translation Centre for Speech Disorders in Australia welcomed families to take part in a study on speech and nonverbal communication in KIF1A Associated Neurological Disorder (KAND). Professor Angela Morgan and Lottie Morrison aim to identify the effects KAND has on speech, communication, and language. This international study supports families who speak English, Spanish, Portuguese, French, Dutch, German, and Italian, and KAND patients can be verbal or non-verbal. So far almost 50 families have completed the study!

Vision Research

We know that vision loss is a primary concern in our community, but there’s much we don’t know about KIF1A function in visual systems. To this end, the MCRI group is studying the optic nerves of KAND mouse models, and creating eye organoids from patient-derived iPSCs so we can test new therapeutics.

KIF1A Mini-Gene

A KIF1A mini-gene is a smaller version of the KIF1A gene that adds a functional protein to increase healthy KIF1A levels. This aims to treat people with loss-of-function mutations or KIF1A deletions. Dr. Simran Kaur’s 2023 conference talk briefly describes the KIF1A mini-gene approach.

Research Network

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 treatments for KAND.

NeuCyte logo

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. Dr. Wayne Poon shared these updates during our 2023 Conference. We are now fundraising for Phase II, where we will test our first batch of potential therapeutics in NeuCyte’s platform!


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.

Albert Einstein College of Medicine logo

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. Dr. Sosa presented information about this during our 2023 conference. Additionally, 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.

KAND Cell and Mouse Models, and Prime Editing with the Jackson Laboratory

The Jackson Laboratory, which has developed 3 KAND mouse models and 9 KAND cell models, is working on prime/base editing, which precisely replaces sections of mutant KIF1A DNA with the healthy sequence. This would allow a single gene therapy to replace an area of KIF1A that includes multiple disease-causing mutations, and treat multiple mutations at once. Dr. Markus Terrey described this approach during his conference talk.

KIF1A.ORG Research Network Logo

KIF1A.ORG Conference Attendance

We don’t exist in a vacuum and don’t want to reinvent the wheel, which is why it’s crucial for us to learn! In the last year, KIF1A.ORG attended several conferences to connect with world leaders in rare disease research and advocacy:

  • American Epilepsy Society, where we learned about the subtleties of epilepsy and met with companies working on new treatments
  • Society for Neuroscience, where we met with researchers from across the globe working in pre-clinical therapeutic development
  • American Society of Gene and Cell Therapies, where we learned about how other rare disease groups are tackling the scientific and regulatory hurdles of creating these therapies

Over 160 members driving KIF1A research and therapeutic discovery make up our Research Network!

Community Impact 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.

68 new families from around the world joined our community in 2023.

Family Support & Resources

Families have been supported this year with opportunities to connect with each other and research network members, enroll in our studies, and provided symptom resources to help navigate KIF1A life. Below you’ll find a recap of some of the resources we’re most proud of.

Hosting our 3rd In-Person KAND Family and Scientific Engagement Conference: In 2023,, we hosted over 150 people from around the world for a four-day conference in New York! The first two days were dedicated to research enrollment in our KOALA Natural History Study (NHS), where 30 patients from around the world completed comprehensive assessments and provided blood samples to enhance our collective NHS data. The following two days brought together patients, families, academics, researchers, clinicians, biotech professionals, and community supporters. This time allowed families and patients to receive updates on KIF1A scientific advancements and for Research Network members to learn from each other and hear directly from families about their experiences with KAND, their fears, and their hopes for the future. Bringing the community and research network members together in one space was invaluable, fostering meaningful connections, relationships, and information sharing at it’s best.

2023 KAND Family & Scientific Engagement Conference

Symptoms in KAND: KAND is a complicated disorder, and new families or physicians may not know what to expect or what treatments are being used now. This is why we created Symptoms in KAND pages for Epilepsy, Vision Loss, and Spasticity, which include one-page summaries. We will update these resources as we learn more, and integrate other KAND symptoms as well.

KOALA Travel Assistance: Our relentless community is amazing, and always finds way to support each other through this unpredictable and often difficult journey. During KIF1A Day in 2023, our community and supporters donated over $20,000 to provide travel assistance for 10 families enrolled in our KOALA study at the 2023 KAND Family and Scientific Engagement conference.

International KAND Ambassadors: In late 2023, we created our International Ambassador Program with the help of parent volunteers in 10 different countries. Our volunteer Ambassadors are knowledgeable about KAND, KIF1A.ORG, are multilingual, and connect with KAND families in their country as well as welcome newly diagnosed families into their regional community.

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!

We Remember

The cruel fate of KAND means our community doesn’t only celebrate progress and growth. Each year, 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.

Policy and 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.

Policy and Advocacy Committee: The KAND Policy and Advocacy Committee was established with the help of Ashira Vantrees, sister of KIF1A warrior Athena Vantrees and a lawyer at Aimed Alliance. Ashira recognized the need for KIF1A.ORG to develop a clear stance on rare disease legislation and aimed to boost community involvement in advocacy. With her support, we surveyed the community to identify barriers to accessing care, built a framework for future policy and advocacy goals, and have begun submitting policy position statements regarding current rare disease legislation in Congress.

Accessible Parks: A Triumph of Advocacy and Inclusion

In a remarkable display of advocacy and community spirit, two dedicated families have transformed their cities by championing the creation of inclusive and accessible parks. Thanks to the relentless efforts of their parents, Max from Indiana and Gunnar from Wisconsin now have playgrounds where every child can play and thrive.

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 $244,000 USD to accelerate our mission in 2023.

Organizational Finances in 2023

In 2023, KIF1A.ORG started the year with $269,000 USD in our account. Collectively the organization brought in $244,000 in donations from our relentless community supporters. During the course of the year, the organization spent $443,000 funding projects, hosting the conference, and supporting existing research partners. We ended the year with $70,000 in the account.

2023 Tax Documents: 990, Schedule B, Char500

Organizational Updates

We’ve made several updates in 2023 including:

  • Appointing a new director and board members
  • Updating our by-laws
  • Transitioned to a third-party accounting firm
  • Established a permanent organizational address in New York City

While change and updates can be challenging and time consuming, our community has persevered with remarkable resolve.


Our board members are tirelessly dedicated to serving our community. They invest countless hours in strategic planning, fundraising, and advocacy to ensure that our mission is not only upheld but also advanced. Their unwavering commitment and passion drive our initiatives forward, making a tangible difference in the lives of those we serve. Through their hard work and dedication, they foster a stronger, more inclusive community for everyone and we thank them for their support!

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.

We hope you enjoy the following video of our warriors dancing to our favorite music: Fight Song, by Rachael Platten.

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