2020 Impact graphic with abstract fireworks

Another year has come and gone, and despite the changes and challenges that this year brought for many, the KIF1A.ORG community continued to experience exponential growth thanks to people like you. Real growth. Tangible growth. Growth that will allow THIS generation of individuals living with KIF1A Associated Neurological Disorder (KAND) to realize dreams, gain independence and enjoy a healthy future.

Though our dream is closer every day, days of hope are running out. We must work faster. There is no time to waste.

Growing a united, global KIF1A.ORG community is at the forefront of sustaining traction in our progress. Our community thrives because of you: relentless KIF1A families, a collaborative Research Network of scientists, clinicians and innovators, and supporters who believe in our mission. Though the world has been rocked by COVID-19, our determination and passion did not falter.

Take a look at the remarkable progress we’ve made together in 2020. Thanks to you, we’re more optimistic and relentless than ever as we head into 2021.   

Rapid Organizational Growth

With support from the Chan Zuckerberg Initiative’s Rare As One grant, KIF1A.ORG created three staff positions in 2020 to boost capacity and keep up with our organization’s growing momentum.

Headshot of Dr. Dominique Lessard

Dr. Dominique Lessard
Chief Science Officer

Headshot of Charlotte Klinepeter

Charlotte Klinepeter
Administrative Manager

Headshot of Aileen Lam

Aileen Lam
Science Communication Associate

Each of these new team members bring valuable strengths and experiences to the organization, joining our existing team:

  • Luke Rosen, Co-Founder & Board Chair
  • Kathryn Atchley, President
  • Shannon Scott, DNP, Chief Patient Officer
  • John Siemer, CPA, Treasurer

Family Support Highlights

KIF1A.ORG recognizes each and every one of the fierce, supportive, and committed families who lead the way in the world of rare disease. As a family-led organization, KIF1A.ORG relies on this small but mighty growing community of families to drive our mission forward. Whether you live in Australia, China, Poland, the UK, Brazil, the US or anywhere in between, we thank you for being here and strengthening our community.

Over 125 new members from around the world joined our family community in 2020.


We’ve created several supportive and educational resources this year for KIF1A families, whether they are newly diagnosed or have been living with KIF1A for years. Do you have an idea for a new resource in 2021? Send us an email at impact@kif1a.org!

  • Coping and Family Boxes: Thanks to our friends at Ryan’s Case for Smiles and Phillies Charities, Inc., KIF1A.ORG launched a new program to bring support and comfort to KIF1A superheroes undergoing a medical procedure or recovering from an injury.
  • Family Directory: To help build connections between KIF1A families from around the world, KIF1A.ORG launched a private Family Directory. Contact us to learn more.
  • A Note to Siblings: Not sure how to explain KIF1A to younger family members? We created this resource to help siblings and their parents understand KIF1A and how it might impact siblings.
  • KIF1A Glossary: Don’t let scientific jargon and gobbledygook keep you from learning about KIF1A. The KIF1A Glossary helps KIF1A families understand scientific and clinical terms they might encounter in research or other scientific communication.
  • Research Simplified: We introduced two new Research Simplified summaries this year—one from the Holzbaur Lab to help families learn more about the history of KIF1A research, and another to learn more about the latest advancements from the Christodoulou Lab.
  • #ScienceSaturday: In 2020, we wrote 50 (yes, 50!) #ScienceSaturday blog posts to share relevant and exciting scientific news with the KIF1A community.

Research and Therapeutic Development Highlights

KIF1A.ORG continues to gather the brightest in the field to work relentlessly on bringing treatment to this generation of people affected by KAND.

Advancing Progress at Chung Lab

Wendy Chung, MD, PhD, and her team at Columbia University Medical Center in New York City have been our partners since the founding of KIF1A.ORG in 2017. The Chung Lab spearheads a robust preclinical KAND program and leads several collaborations within the scientific community focused on bringing treatment to families affected by mutations in KIF1A.

Natural History Study Update

Understanding KAND and the progression of the disease informs our path to treatment. In 2017, the Chung Lab launched the world’s only KIF1A Patient Registry and Natural History Study with funding from KIF1A.ORG. 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.

140 patients across 26 countries have enrolled in the KIF1A Patient Registry and Natural History Study as of December 2020.

Genotype and Defects in Microtubule-Based Motility Correlate with Clinical Severity in KIF1A Associated Neurological Disorder Pre-Print Released

The release of this pre-print is a major milestone for the Chung Lab and a reflection of many years of persistent work with KIF1A families and academic collaborators. This work shares access to the latest data collected and analyzed through our Natural History Study. Every single family enrolled in the Natural History Study made a huge impact on KIF1A research with this comprehensive report. 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.

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.

4 new funded projects to accelerate the path to KAND treatment launched in 2020.

photo of team at Christodoulou Lab

High Throughput Targeted Screening at Christodoulou Lab

KIF1A.ORG partnered with the Christodoulou Lab to search for existing drugs that could immediately improve and save the lives of KAND warriors. Using high throughput targeted screening for potential repurposed FDA-approved drugs, we could potentially bypass millions of dollars in drug development and years of clinical trials by looking at already existing, FDA-approved drugs that may bring relief to KAND patients.

photo of Aileen Lam and Dr. McKenney

KIF1A Gene Function Research Continues at the McKenney Lab

The McKenney Lab at University of California is a longstanding partner to KIF1A.ORG. McKenney Lab specializes in the kinesin investigation and how dysfunction in KIF1A causes human disease. This research provides us valuable information about the role of certain KIF1A structural elements in disease.

Headshot of Dr. Barinka

Bařinka Lab HDAC6 Inhibition Research with HNF Pharma Inc. and The Jackson Laboratory

This new partnership with Cyril Bařinka, Principal Investigator at the Institute of Biotechnology of the Czech Academy of Sciences, will allow for collaboration between HNF Pharma Inc. and The Jackson Laboratory to study the HDAC6 inhibition as a potential therapeutic for KAND.

AMRI logo

Albany Molecular Research Inc. (AMRI) Project through Rising Tides grant from The Child Neurology Foundation

Our first project initiated with AMRI is an in silico docking study, which uses sophisticated computer technology to conduct computational experiments that help us understand the shape and structure of the KIF1A protein. The goal is to help identify certain drugs or compounds that fit well into the KIF1A’s unique shape to aide in treatment.

New Collaborations in 2020

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.

That has all changed thanks to our relentless community. In 2020, we expanded our KIF1A Research Network, partnered with an internationally acclaimed biobank to make our research more accessible to scientists around the world, and two biotechnology companies launched therapeutic development programs for KAND.

KIF1A Research Network Logo

Uniting Our Research Network Through Monthly Research Roundtable Meetings

Under Dr. Lessard’s leadership, the KIF1A Research Network currently includes 17 institutions from five countries that actively collaborate with KIF1A.ORG and fellow network members to accelerate our path to KAND treatment. In July 2020, we held our first monthly Research Roundtable meeting to bring together researchers, clinicians and innovators from our Research Network to exchange ideas and strengthen our research strategy.

Coriell Logo

Coriell Institute for Medical Research Human Genetic Cell Repository

Critical bio samples, induced pluripotent stem cells, made from KIF1A patients are now available via the Human Genetic Cell Repository to researchers around the world thanks to KIF1A.ORG’s partnership with Coriell Institute for Medical Research.

Ovid Therapeutics Logo

Ovid Therapeutics Collaboration with Chung Lab

Ovid Therapeutics joined forces with Chung Lab to identify, develop and advance new treatments into future clinical trials for both KAND and other rare conditions. Ovid, focused on transforming the lives of people with rare neurological diseases, is working with Chung Lab to identify molecular targets for advancing the development of genetic-based therapies.


Ionis Therapeutics Joins the KIF1A.ORG Mission

Ionis Pharmaceuticals, the world’s leader in RNA-targeted therapeutics, is in its early stages of a research program to develop a potential antisense oligonucleotide (ASO) treatment for KAND patients. Though in the early stages of this development, this is a significant impact on research of KIF1A and treatment for those living with KAND.

Advocacy Highlights

The Gene

The KIF1A.ORG community was featured in The Gene: An Intimate History, a Ken Burns documentary that has aired on PBS and in countries around the world. Part One told the story of KIF1A.ORG co-founders Luke Rosen and Sally Jackson, and our urgent mission to discover treatment for KAND.

Fundraising Highlights

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.

Much of our progress is powered by grassroots, family-led efforts to crowdsource public awareness and fundraising. Here are a few highlights:

  • First ever Superhero Challenge for a Cure: This virtual fundraiser allowed families an opportunity to create their own fundraising challenges. Our KIF1A family community raised over $27,000 during this virtual event!
  • Giving Tuesday: through this global movement, contributors donated over $27,000 to support our therapeutic development efforts!
  • Facebook Birthday Fundraisers: one of the easiest and kindest ways to raise donations for KIF1A.ORG is to donate your birthday to our mission. This year, you helped us raise over $47,000 by celebrating your birthday with KIF1A.ORG!


Chan Zuckerberg Initiative

In February, KIF1A.ORG was one of the 30 patient-led rare disease organizations accepted into the Rare As One Project. A $450,000 grant was awarded to build our capacity and expand our collaborative KIF1A Research Network. This partnership with CZI and the RAO cohort has been a gamechanger for KIF1A.ORG. With RAO funding, tools, capacity-building, guidance, and collaboration, KIF1A.ORG is powered to race faster than ever to #StopTheClock and discover treatments for KAND.

Child Neurology Foundation

In June, CNF awarded KIF1A.ORG $10,000 through their COVID-19 relief Rising Tides grant. This vital funding helped KIF1A.ORG continue to accelerate KIF1A research at AMRI, a reliable and innovative contract research organization, to reduce the impact of COVID-19 disruption on our research efforts.

We collaboratively raised over $700,000 USD to accelerate our mission in 2020.

This major accomplishment could not have been possible without our passionate families and community fighting each day to advance KIF1A.ORG’s mission. This money will be used to boost our capacity and fund strategic research projects with one ultimate goal: treatment. Thank you for helping us create a brighter future for our superheroes.

Against all the odds, we’ve made incredible impact together in 2020. As we remember the progress and success we generated this year, the KIF1A clock is ticking. We must accelerate our relentless efforts to achieve our mission.

We look forward to continuing our partnership with you—families, researchers, clinicians and supporters—to make 2021 a monumental year. Whatever role you play in our community, we need you. Thank you for all that you do to help us realize our mission for KIF1A superheroes everywhere.


  1. 1
    The Finnells — Superhero Josie’s family on December 23, 2020

    Thank you for this amazing update and for all that you do! 2021, here we come!!

  2. 2
    The Butchers - #TeamAva on December 23, 2020

    Wowzers! What an amazing community we have. We are FOREVER grateful!!

  3. 3
    Team Anderson on December 23, 2020

    Thank you to every single researcher, family member, advocate and supporter! We can’t thank you enough.

  4. 4

    […] The Year in Review: 2020 Impact […]

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