#ScienceSaturday posts share relevant and exciting scientific news with the KAND community. This project is a collaboration between KIF1A.ORG’s Research Engagement Team Leader Alejandro Doval, President Kathryn Atchley, Science Communication Volunteer Aileen Lam and Chief Science Officer Dr. Dominique Lessard. Send news suggestions to our team at impact@kif1a.org.

Welcome Dr. Dylan Verden!

Please help us extend a warm welcome to Dr. Dylan Verden, KIF1A.ORG’s new Research Engagement Director! Dr. Verden will be a driving force of KIF1A.ORG’s efforts to engage our diverse community of stakeholders—spanning from patients and caregivers to clinicians and scientists—who are working relentlessly to accelerate the path to treatments for KIF1A Associated Neurological Disorder.

Image on blue background with Dylan's headshot and text that says "Welcome to the team, Dr. Verden!"

KIF1A-Related Research

Neuroradiological Findings In Children With Genetic Variants In KIF11

Did you know that KIF1A is just one of over forty different kinesin motors that have been identified? While all these members of the kinesin superfamily share common characteristics, they also have many differences that make them unique! This week we are focusing on a kinesin protein known as KIF11. While there is a strong link between KIF11 expression levels (how much of the protein is produced in our bodies) and certain types of cancer, the role of KIF11 in the nervous system is also becoming more clear over time. (Note: KIF1A Associated Neurological Disorder is not associated with cancer.)

Today we are featuring a presentation on how mutations in the KIF11 gene can present in a clinical cohort, causing many neurological phenotypes such as microcephaly (significantly smaller head), developmental delay, and visual impairment. Importantly, KIF1A is discussed in this presentation as a well-characterized kinesin protein known to impact neurological function if impaired (mutated, deleted, etc.). Lastly, the authors conclude that these novel KIF11 findings are common amongst other kinesin proteins, highlighting the important role of the kinesin superfamily in the human nervous system.

While we typically share scientific papers in #ScienceSaturday, this week we are featuring a different style of science communication called a “poster presentation.” This is a common way that scientists will present information to each other, through a combination of visual aid and conversation. Want to learn more about scientific poster presentations? Check out the video below!

Rare Disease News

Intro to iPSCs: A Q&A with Coriell’s Stem Cell Expert

Induced pluripotent stem cells (iPSCs) are a foundational tool used by the KIF1A Research Network to better understand KAND and test potential treatments. But what is an iPSC? How can scientists create them from skin or blood cells? And why are iPSCs so valuable for the research community? Check out this blog post from to learn more about how iPSCs are used in research. KIF1A.ORG is proud to partner with Coriell to ensure that KAND patient-derived iPSCs are available to the scientific community. To learn more about available KIF1A iPSCs at Coriell, click here!

Seven technologies to watch in 2022

With so many ground-breaking scientific discoveries being revealed every single day, what are some of the main fields of scientific advancement to follow for the year ahead? This week we are highlighting an article that discusses seven technologies to watch in the science and therapeutic development space. These technologies range from techniques to learn more about the human genome to technologies that can help solve complex physics problems that help advance super-computer capabilities. What catches our eye on this list? Precise genome manipulation, targeted genetic therapies, and spatial multi-omics are all on our radar here at KIF1A.ORG. All three of these technologies are critically important for the development of new therapeutic tools, especially those related to the rare and genetic neurodegenerative disease space. In the context of KAND some of these approaches, like CRISPR-mediated gene editing or viral vector-mediated gene therapies, are currently limited by technology, meaning we need to see significant technological advancement before they can effectively and safely be applied in a KAND system or KAND patients. This is why we are so excited to see these types of approaches on the “watch list” for technological advancement in 2022!

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