Livia Bottini ElizardoDecember 3, 2023 – August 12, 2025Brazil From Livia’s family: 30 dias sem a minha pirulita, meu grudinho, minha loirinha. Aquela culpa ainda bate “Não consegui salvar minha filha dessa doença”, “não consegui te curar, meu amor”. Eu sei que não estava nas minhas mãos, eu sei que não posso ter tudo no...| KIF1A
Monthly Momentum| KIF1A
Updates from KIF1A.ORG While summer may be winding down in the Northern hemisphere, we are revving up to finish out 2025. Read on below to learn more about: KIF1A Virtual Hill Day – Advocacy Opportunity for KIF1A Community! We are seeking US-based volunteers interested in participating in a virtual “KIF1A hill day” during the week...| KIF1A
We write about topics of interest to the KIF1A Associated Neurological Disorder community, including care, research and stories from our superheroes.| KIF1A
Whether you’re planning a trip to New York City to participate in the KOALA Study at Columbia University or you’re going on vacation, traveling can be a daunting process. In this guest blog post, Charisma Freeman—mother to KIF1A superhero Cam, author, care coach, and more—shares her tips on traveling with disabilities. So you’re ready to...| KIF1A
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...| KIF1A
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...| KIF1A
Dear KIF1A.ORG community, On Rare Disease Day 2022, KIF1A.ORG is announcing a new initiative with our collaborators at Columbia University. The KOALA Study will accelerate discovery and development of medicines for KIF1A Associated Neurological Disorder by developing and identifying standardized tools and assessments to support approval of future KAND therapeutics. Since 2017, we have been...| KIF1A
Hello KIF1A.ORG Community, Want to know what’s more valuable than money? Data. In rare diseases, data are inherently difficult to collect and analyze. But we rely on data to inform everything from creating better care guidelines to discovering treatments and cures. We can’t treat what we don’t know. Which symptoms do patients experience, and why...| KIF1A
Dear KIF1A Community, Equipment deemed medically necessary should never be inaccessible for our friends diagnosed with KIF1A Associated Neurological Disorder (KAND). Thanks to a generous donation made directly to support the creation of this much needed program, KIF1A.ORG can now provide additional support and extend a helping hand to those diagnosed with KAND. What Can...| KIF1A
Introducing Interim Director, Angie Fuller| KIF1A
You asked so many great questions at our 2022 KAND Family & Scientific Engagement Conference. While we didn’t have time to address every question at the conference, we’ve compiled our answers here for your convenience. You can find all of the presentation recordings and slides on our 2022 KAND Conference webpage. Do you still have...| KIF1A
Updates from KIF1A.ORG July was an unforgettable month for the KIF1A.ORG community! We had an incredible time connecting, learning, and growing together at the 2025 KAND Family & Scientific Engagement Conference. Thank you to every family, researcher, clinician, and supporter who made this event such a success. If you couldn’t join us—or if you just...| KIF1A
What do worms, a classroom full of students, and members of the KAND family community have in common? A lot more than you’d think! In this blog post, KIF1A.ORG Chief Science Officer Dr. Dominique Lessard describes a unique cross disciplinary experience with multiple scientific stakeholders in the rare disease space, all focused around our holistic...| KIF1A
Join the Movement: Genetic Testing Action Day—July 25, 2025 Empowering Families to Start Genetic Join us for the inaugural Genetic Testing Action Day on July 25! In collaboration with CureSHANK and other rare disease organizations, we’re proud to support Start Genetic—a national movement dedicated to raising awareness about the critical role of genetic testing in... The post Genetic Testing Action Day – July 25th appeared first on KIF1A.| KIF1A
The post 2025 KAND Conference: Nearby eateries, stores, entertainment, and public transit appeared first on KIF1A.| KIF1A
Please note the following updates to the agenda: Thanks for your flexibility as we make these necessary adjustments!| KIF1A
#ScienceSaturday posts share exciting scientific developments and educational resources with the KAND community. Each week, Dr. Dylan Verden of KIF1A.ORG summarizes newly published KIF1A-related research and highlights progress in rare disease research and therapeutic development. KIF1A-Related Research Characteristics of Sensory Neuron Dysfunction in Amyotrophic Lateral Sclerosis (ALS): Potential for ALS Therapy Overlap between KAND and...| KIF1A
Dear KIF1A.ORG Community, As the middle of the year rolls in, we’re filled with excitement and anticipation for our upcoming KAND Family & Scientific Engagement Conference happening July 25–26, 2025 in Boston, Massachusetts! This event is one of our most important opportunities to bring together patients, families, researchers, clinicians, and advocates—all united in our mission...| KIF1A
From KIF1A.ORG| KIF1A
Wearable Digital Data Collection Is On the Horizon: Meet BioSensics KIF1A.ORG is thrilled to announce an exciting new initiative to enhance our natural history study and accelerate progress toward clinical trials: wearable digital data collection in partnership with BioSensics, a leading innovator in digital health monitoring for rare diseases. As part of our efforts to...| KIF1A
KIF1A.ORG Newsletter – May 2025 Dear KIF1A.ORG Community, It has been almost four weeks since I started assimilating into the role of KIF1A.ORG’s new Executive Director and, WOW, what a four weeks it has been. From connecting with community members, to learning about our ongoing and upcoming projects, I am filled with excitement about everything... The post May Monthly Momentum appeared first on KIF1A.| KIF1A
A message from London’s family in New York, USA: London is our beautiful and sassy little 7 year old girl with a BIG personality. London was diagnosed with KIF1A in 2022. It has been a journey and still is but nothing stops London from letting her personality shine. She’s definitely the Queen Bee! London loves... The post London’s Superhero Story appeared first on KIF1A.| KIF1A
A message from Athena’s family in California, USA: Athena is 6 years old. She was diagnosed at the age of 5 when I requested genetic testing for her after speaking to her orthopedic surgeon. We kept thinking we were missing something. Something wasn’t adding up. Her ortho doctor and I decided that we should speak... The post Athena’s Superhero Story appeared first on KIF1A.| KIF1A
KIF1A.ORG Newsletter – April 2025 Welcome Our New Executive Director, Dominique Lessard, Ph.D.! I’m thrilled to share exciting news about the leadership at KIF1A.ORG. Beginning April 14th, Dominique Lessard will officially step into the role of Executive Director, replacing myself, Angie Fuller. Dominique has been a dedicated force within our organization as our previous Chief...| KIF1A
Will You Join Us for Miles That Matter for KIF1A? This February, we’re challenging ourselves—and each other—to complete 28 miles (or more!) by February 28,...| KIF1A
Science Saturday| KIF1A
#ScienceSaturday posts share exciting scientific developments and educational resources with the KAND community. Each week, Dr. Dylan Verden of KIF1A.ORG summarizes newly published KIF1A-related research and highlights progress in rare disease research and therapeutic development. KIF1A-Related Research Presynaptic perspective: Axonal transport defects in neurodevelopmental disorders When you get caught in a traffic jam, there can...| KIF1A
#ScienceSaturday posts share exciting scientific developments and educational resources with the KAND community. Each week, Dr. Dylan Verden of KIF1A.ORG summarizes newly published KIF1A-related research and highlights progress in rare disease research and therapeutic development. KIF1A-Related Research Genetic Alterations in a Large Population of Italian Patients Affected by Neurodevelopmental Disorders We often talk about genetic...| KIF1A
#ScienceSaturday posts share exciting scientific developments and educational resources with the KAND community. Each week, Dr. Dylan Verden of KIF1A.ORG summarizes newly published KIF1A-related research and highlights progress in rare disease research and therapeutic development. KIF1A-Related Research Whole exome sequencing in Serbian patients with hereditary spastic paraplegia This year we’ve seen several studies investigating the...| KIF1A
#ScienceSaturday posts share exciting scientific developments and educational resources with the KAND community. Each week, Dr. Dylan Verden of KIF1A.ORG summarizes newly published KIF1A-related research and highlights progress in rare disease research and therapeutic development. KIF1A-Related Research Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease Charcot-Marie-Tooth (CMT) disease is an inherited disorder that...| KIF1A
#ScienceSaturday posts share exciting scientific developments and educational resources with the KAND community. Each week, Dr. Dylan Verden of KIF1A.ORG summarizes newly published KIF1A-related research and highlights progress in rare disease research and therapeutic development. Meet our Guest Bloggers! This spring we’ve been quite fortunate to be joined by 6 Master’s students from Columbia University,...| KIF1A
