What a year! As families, scientists, doctors and our friends around the world navigated the challenges of 2021, the KIF1A.ORG community worked together to reach new heights this year. We are so excited to highlight our proudest achievements in 2021 and what refuels and restores our drive for 2022. Together, we’re going to change the fate of KIF1A Associated Neurological Disorder.
Our urgent mission can’t wait another year. Another month. Another day.
When we say relentless, we mean it. The KIF1A.ORG community’s response and action since COVID-19 wrecked our definition of “normal life” exemplifies the relentlessness of our KIF1A families, Research Network of scientists, clinicians and innovators, and supporters who believe in our mission. As this community grows, so does our army of advocates and supporters.
We’re speeding right into 2022 with sustained traction on the road to therapeutic discovery because of YOU! Check out all we’ve been able to make happen in 2021!
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.
Newly Available Resources
Families have been supported this year with new 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.
(Psst… we have exciting programs in development for 2022. Do you have an idea for a new resource? Send us an email at impact@kif1a.org!)
Coping and Family Boxes: While we’re working relentlessly to cure KAND so our friends don’t have to endure hospitalizations and injuries, we’re here to offer a little care to families as they face today’s challenges. Thanks to our friends at Ryan’s Case for Smiles, Phillies Charities, Inc., and individual donors, KIF1A.ORG sent coping boxes to 15 KIF1A families from around the world this year! If your superhero ever needs a care package, let us know here.
KAND Clinician Directory: We asked, and you delivered! With the help from our families, KIF1A.ORG successfully launched our own clinician directory to be a resource when new families join our community or for those in need of recommended options within their region.
Clinical Trials 101: Many inquiries are made about future clinical trials for KAND. Would my child qualify? When will it happen? We may not have answers to specific questions like these, but those questions we can answer are now part of a resource created to explain the general clinical trial process. Additionally, there are country-specific resources that delve into different regulatory agencies and approval processes. Thank you to KIF1A.ORG volunteer, Lindsey Christinger, for collaborating with KIF1A.ORG on this resource!
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. This year, we were able to compile answers to 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.
The Potential of Small Molecule Drugs for KAND: We worked with a team of grad students from Columbia University this year to create new Research Simplified resources. In a previous blog post this year, we introduced what small molecules are. In this video, we followed-up with answering what small molecule drugs can potentially do to treat KAND.
#ScienceSaturday: In 2021, we wrote 49 #ScienceSaturday blog posts to share relevant and exciting scientific news with the KIF1A community.
#ThisIsKIF1A: Brought to you by suggestions from our very own family community, we launched #ThisIsKIF1A, a social media campaign, allowing KIF1A families a platform to show the world what living with KAND is really like.
This Is KIF1A shared by Emma’s mom: “Emma will be 2 in June. She is still not mobile and although she can independently put herself into sitting position, she often loses her balance even during simple activities like this one. We constantly worry for her safety and know that as she gets bigger, these falls will start having a much bigger impact on her. KIF1A has already put a huge strain on her development, and we fear it will only get worse.”
Birthday Card Exchange: This is another resource brought to fruition after a wonderful suggestion from another KIF1A mom who wants to make sure other KIF1A superheroes know they are loved and not alone, especially on their special day. If your KIF1A family would like to join the exchange, reach out to us!
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. KIF1A.ORG’s Monthly Momentum newsletter was a new initiative for 2021 to provide you monthly updates on our progress.
Introduction of Quarterly Community Calls: Our family and caregiver community thrives when we can support one another. KIF1A.ORG is now hosting quarterly calls with the community to share updates and offer a time for families to connect with one another. The next one is January 22nd! Look for the event in the private support group, or contact us. We hope to “see” you there.
2021 KAND Family and Scientific Engagement Conference: KIF1A.ORG hosted the 2021 KAND Family & Scientific Engagement Conference on July 9 and 10 to share the latest advancements in research and therapeutic development. Whether you want to re-watch a session for the 6th or 7th time, or you weren’t able to join the live conference, you can catch up on our conference webpage.
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.
Paper Published: Genotype and Defects in Microtubule-Based Motility Correlate with Clinical Severity in KIF1A-Associated Neurological Disorder
This year, the most comprehensive publication on KIF1A-Associated Neurological Disorder was shared in a peer-reviewed journal, Human Genetics and Genomics Advances. The work was led by the Chung Lab and funded in part by KIF1A.ORG. Every single family enrolled in the Natural History Study made a huge impact on KIF1A research with this publication. This work not only provides a summary of clinical KAND phenotypes, KIF1A variants with corresponding frequency and disease severity, but it also explores the molecular mechanisms of KAND, which helps inform our therapeutic strategies. With the help of those who participate in the study, more data is now available for clinicians all over the world diagnosing new families. We know all too well that families often are the experts in this disease, so a published paper from our very own Natural History Study is very meaningful in supporting future patients and their doctors as well.
Get to Know Our Research Network: Alexa Geltzeiler
Alexa Geltzeiler
Clinical and Research Genetic CounselorAlexa is a clinical and research genetic counselor at Columbia University Irving Medical Center. She will be working with the KIF1A community to help make your research participation easier, more accessible, and more effective. She will also be involved in the organization of family meetings and the in-person natural history study. We had the opportunity to ask Alexa a little about herself. You won’t want to miss this!
Newly Funded Projects
In addition to ongoing research at the Chung Lab and R&D collaborations (read about that below), KIF1A.ORG funds strategic projects powered to rapidly develop treatment for KAND. Our funded project list continues to expand, and this year is no exception.
Treatment Accelerator Program at NeuCyte
In August, KIF1A.ORG announced its partnership with NeuCyte to launch our very own Treatment Accelerator Program (TAP) for KAND therapeutic discovery. NeuCyte is a high-performing biotechnology company with the capabilities and experience we need to create an openly accessible platform for academic researchers and biotechnology companies from around the world to learn more about KAND and test potential therapeutics.
ASO Therapeutic Development Projects with Rarebase
Our project with Rarebase aims to develop an antisense oligonucleotide (ASO) to reduce pathological axonal degeneration. Rarebase is a public benefit corporation pioneering a new approach to biotech by partnering with patient communities like ours. The initial scope of work for this project began in March 2021, and includes iPSC differentiation, identification of markers for neurodegeneration, and ASO testing in KIF1A motor neurons.
Artificial Intelligence (AI) Drug Discovery with Gennerich Lab and Atomwise
Through this project, Research Network member, Dr. Arne Gennerich, Principal Investigator of the Gennerich Lab at the Albert Einstein College of Medicine, in collaboration with Dr. Hernando Sosa and the AI drug discovery company Atomwise, is combining cryo-electron microscopy (cryo-EM) and technology to improve our structural knowledge of the KIF1A protein and search for small molecule compounds to treat KAND. Check out more in our blog post about the newly funded project!
KIF1A.ORG Mini Grants
Small roadblocks should never halt therapeutic discovery. That’s why we created our mini grant initiative for KIF1A researchers in 2021. This year we awarded mini grants ($5,000 or less) to three Research Network members:
- Dr. Michael Silverman, Simon Fraser University, Canada: Characterizing microtubule-based cargo transport in KAND patient-derived induced neurons
- Dr. Jayne Aiken, University of Pennsylvania, United States: Dissecting the cellular consequences of distinct classes of KIF1A mutants
- Dr. Kumiko Hayashi, Tohoku University, Japan: Non-invasive force measurement method applied to axonal transport by KIF1A in human iPSC derived neurons
We look forward to sharing more about these projects and their progress in 2022!
New Collaborations in 2021
When KIF1A.ORG was founded in 2017, KIF1A was so unknown, there was not a name for the disorder we now call KAND. There was no coordinated effort, either in research institutions or the pharmaceutical industry, to discover treatment for KAND.
The continued growth in our organization’s capacity has enabled us to build and strengthen a multidisciplinary network of experts from around the world. The KIF1A Research Network has grown to over 50 institutions working collaboratively to better understand KIF1A and rapidly discover treatments. Learn more about key institutions of the KIF1A Research Network and our collaborations here.
Research Roundtable Meetings
Since our first monthly Research Roundtable in July of 2020, the Research Network has grown exponentially. These meetings allow researchers, clinicians and innovators from our Research Network to collaborate, share perspectives, exchange ideas and strengthen our research strategy. Mini Research Roundtable meetings were added this year to establish a platform for members to focus on problem-solving around specialized topics.
BioLoomics
This summer, 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.
Australian Government Awards Grant to KIF1A Research Network Members
Congratulations to Dr. Simran Kaur and KIF1A Research Network members on their three-year grant award of $775,019 AUD from the Australian National Health and Medical Research Council to study epilepsy treatment for KAND!
Others from our KIF1A Research Network who are also part of this grant project are:
- Prof John Christodoulou, Murdoch Children’s Research Institute, Australia
- Dr. Wendy Gold, Children’s Medical Research Institute, Australia
- Dr. Wendy Chung, Columbia University, United States
- Dr. Lia Boyle, Columbia University, United States
- Dr. Jennifer Bain, Columbia University, United States
- Dr. Michael Silverman, Simon Fraser University, Canada
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.
Press
KIF1A Day: Translating Awareness into Action
Every year on April 28th, we celebrate KIF1A Day. It also happens to be International Superhero Day. We know that’s not a coincidence. This year, our community rallied together to raise the funding we needed in less than one month to launch the Treatment Accelerator Program with NeuCyte. Thank you to all who joined our efforts. You are the hero of our superheroes!
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.
Family-Led Fundraising
Much of our progress is powered by grassroots, family-led efforts to crowdsource public awareness and fundraising. Here are just a few highlights of this year’s impact:
Team Hoyt: Hoyt’s Heroes raised over $68,000 USD this summer to help the KIF1A.ORG community change the fate of KIF1A Associated Neurological Disorder. We truly can’t thank Hoyt’s supporters enough for being heroes to all of our superheroes!
Team Emma: Emma’s family and friends raised over $16,000 CAD with an adventurous scavenger hunt at Sun Peaks Resort and multiple online fundraisers. It looked like a blast but we know it took a lot of work! Thank you to all who made this event a success!
Treatment Accelerator Program (TAP): KIF1A.ORG’s largest single fundraiser to date was our campaign to launch the Treatment Accelerator Program. We raised over $100,000 USD in less than a month to fast-track therapeutic discovery for KAND (see above to learn more about our TAP partnership with NeuCyte).
Giving Tuesday: Through this global movement, contributors donated $71,685 USD to support our therapeutic development efforts! This was a 163% increase in funds raised over Giving Tuesday by our family community from 2020’s campaign! WOW!
Good Dogg Beverage
KIF1A.ORG announced a one-of-a-kind partner this year: Good Dogg Beverage. As a philanthropic company, Good Dogg Beverage makes a positive impact on communities like ours by donating a portion of their profits from the hard seltzer business! Check out our blog post to learn more about how they “Leverage the Beverage™!” (21 and over, please).
“We at Good Dogg Beverage aim to be a philanthropic company from day one, and we consider it an honor to join your community to further the mission of KIF1A.ORG!”
Andrew Parry, Director of Marketing and Communications at Good Dogg Beverage
Organizational Growth
KIF1A.ES Is Here!
As a global community of patients, families, researchers, clinicians and supporters, we are united in our shared mission. This year, we announced the launch of KIF1A.ES, part of the KIF1A.ORG family, which will help generate family support and research engagement in Spain and across our Spanish-speaking community.
Expansion of the KIF1A.ORG Team
With support from the Chan Zuckerberg Initiative’s Rare As One grant, KIF1A.ORG has been able to expand our team of people dedicated to achieving our mission. KIF1A.ORG currently employs two full-time and two part-time staff, and we’ll be welcoming a new full-time Research Engagement Director next month!
Thanks to grant funding and individual donors who have directed their gifts to support the operations of our organization, 100% of the donations raised through our public fundraising efforts go directly to research and therapeutic development. This team and our Board of Directors are dedicated to serving our community and driving progress toward our mission.
KIF1A.ORG Leadership Team
KIF1A.ORG Board of Directors
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 superheroes before it’s too late.
No matter what your role is in our community, we thank you for joining our mission. You’re making life-changing and life-saving impact on countless superheroes now and in the future. Now, let’s go make 2022 an even more monumental year!