#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.

Recent KIF1A-Related Research

Malformations of cerebral development and clues from the peripheral nervous system: A systematic literature review

Did you know that approximately 1 in 4 individuals who join our KAND community were first given a diagnosis of cerebral palsy (CP)? On a clinical, symptom-presenting level, CP and KAND have many overlapping characteristics, including spastic paraplegia and ataxia. However, with the rise in accuracy and accessibility of genetic testing, we have learned that mutations in the KIF1A gene are commonly reported when CP patients undergo genetic sequencing. The study we are featuring today, led by a team of researchers in Belgium, investigates a new role that KIF1A may play in contributing to malformations in cerebral development (MCDs), or when parts of the brain are formed in an abnormal way. MCDs have not only been linked to CP but also clinical manifestations of intellectual disability and drug-resistant epilepsy, which can also be symptoms of KAND. When researchers look into genetic causes of MCD, monogenic disorders like KAND often arise and over 200 genes have been linked to MCD.

In this study, researchers take a deep dive into the scientific literature to find clues from reported neurological findings to determine their associations with MCDs and any genetic associations. Importantly, KIF1A was one of the genes identified in their search that has been associated with MCD, specifically with symptoms related to neuropathy and spastic paraplegia. From this paper we learn that genetic variants, including KIF1A, of MCDs can also cause a broad spectrum of disorders like KAND and other rare diseases. Want to learn more about the brain? Check out the video below!

KIF1A.ORG News

KIF1A.ORG Now Hiring for a Research Engagement Director

We’re searching for a full-time Research Engagement Director! If you have scientific, research and/or communications experience and you want to join a community of people driving progress against neurodegenerative disease, check out this announcement.

Rare Roundup

Eli Lilly gets behind the latest approach to solving gene therapy’s delivery problem

Since the groundbreaking genetic editing tool CRISPR splashed onto the scene, countless research groups have focused their efforts on how to harness this powerful technology to treat human disease. One of the common challenges to this question is the issue of therapy delivery – how can one effectively deliver a gene therapy? One common approach is to utilize adeno-associated vectors or AAVs. However, it has been found that some patients have a natural type of immunity that causes their bodies to mount an immune response against AAVs. This makes it very difficult to readminister AAV-based treatments to certain patients because their immune systems are primed to inactivate AAV delivery systems when identified in the body. Luckily, a new San Fransisco-based biotech called GenEdit may have found a different approach to bypass this problem.

So what makes this approach to gene therapy different? Instead of relying on AAV technology, GenEdit uses a non-viral, non-AAV approach. This alternative approach uses nanoparticle delivery or microscopic “packages” that contain therapeutic agents and are delivered to specific locations within the body. Because these particles have been chemically synthesized and our bodies have never seen them before, nanoparticles seem to be able to bypass the issue of immune system recognition and help avoid a detrimental immune response. Moreover, these nanoparticles can carry larger cargo loads and cost less to make than AAVs. For KIF1A specifically, we know the large size of the KIF1A gene is a problem for traditional AAV approaches. Success of a technology such as this would be a big win for many rare diseases and we will certainly be following along as GenEdit moves their technology from preclinical to clinical phases of investigation. Exactly how small is a nanoparticle? Check out the video below!

iPSCs 101: Making Pluripotent Stem Cells

Over the next year, we’re going to be talking a lot about induced pluripotent stem cells, or iPSCs. This is a critical tool that many scientists in the KIF1A Research Network use to model KIF1A Associated Neurological Disorder so we can learn more about KAND on the cellular level. Now that we have launched our partnership with NeuCyte, we’ll be creating a robust iPSC system that researchers and biotech companies can use to better understand KAND and test potential therapeutics. This short video from University of California provides a simple explanation of how iPSCs are made and used in research.

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