#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.

KIF1A-Related Research: From the Archives

Association of the Kinesin Motor KIF1A with the Multimodular Protein Liprin-α

This week we are digging back into the vault of early KIF1A research to discuss a study from almost 20 years ago! As we’ve highlighted in many editions of #ScienceSaturday and other blog posts, KIF1A’s ability to transport neuronal cargo very efficiently along great distances is one of its most important roles in our nervous system. Throughout the years, many research teams have aimed to clarify and identify which specific cargo is transported by KIF1A and how improper transport of said cargo can impact overall nervous system health. While extremely informative to identify KIF1A-cargo pairings, this matchmaking thought experiment can be taken one step further by asking: how is cargo able to physically attach to a KIF1A protein?

One way cargo is able to attach to KIF1A proteins is by getting a little help from something known as “adaptor proteins” or proteins within our cells that are specifically designed to connect or link two proteins together. You can think of adaptor proteins like cellular legos that can “click” two pieces together! The paper we are featuring today uncovered one of the first KIF1A-cargo adaptor proteins known as liprin-alpha. Through many experimental techniques, this research team was able to show how liprin-alpha has a direct interaction with KIF1A, facilitating the binding of certain cargos found in the nervous system (AMPA receptors, GRIP, RIM, GIT1, and beta-PIX). From this paper, we were able to figure out a key part of the “KIF1A puzzle” by revealing a pathway by which the KIF1A-cargo connection is made possible. Want to brush up on some KIF1A basics? Check out our “What Is KIF1A?” video below!

Rare Roundup

When Will CRISPR Cures Be Available?

That’s a big question. We’re starting to see the first successful CRISPR treatments for genetic diseases like sickle cell disease. What about the thousands of other rare diseases, like KIF1A Associated Neurological Disorder? This article from the Innovative Genomics Institute talks frankly about some of the barriers that still need to be overcome for CRISPR cures. Some of the scientific challenges are addressed, like designing a treatment that can physically be delivered to the correct cells and making sure there aren’t harmful “off target” effects. The article also discusses some of the more frustrating barriers for rare diseases in particular, including limited interest from biotech companies and the significant amount of money that is required to develop CRISPR cures.

Whether it’s a scientific or human-made barrier to progress, the KIF1A.ORG community is determined to realize treatments and eventual cures for KAND. Our entire therapeutic development strategy is focused on rapidly overcoming scientific barriers and making it easy for biotech companies to say YES to KAND patients and families. The first step any patient or family can take to get us closer to treatments and cures is enrolling in the KAND Natural History Study. The study is open to all KAND patients and families, no matter where you’re from or how long you’ve had your diagnosis. Learn more about how you can advance research here.

Research on human brain development sheds light on neurodevelopmental disorders

Many rare neurological disorders can be placed in the category of “neurodevelopmental disorders” defined as a group of conditions in which the growth and development of the brain is affected. While it can be clear in neurodevelopmental disorders like KAND that aspects of brain development are impaired at a clinical level, there is still much to be learned about how brain development works on a more general level. The article we are sharing today reviews recent research that is aimed at advancing our understanding of the neurodevelopmental process by touching on questions like “how are neurons created?” and “how similar or different are the developmental processes in the brains of mice and humans?”. Click on the button below to dive into the answers to these questions in research from the Institute of Psychiatry, Psychology & Neuroscience (IoPPN) at King’s College London.

Importantly, our work enables new levels of understanding of neurodevelopmental disorders. Many of these disorders have overlapping genetics and phenotypes and changes in striatal and cortical GABAergic neurons have been robustly documented in both autism and schizophrenia.

Professor Marin, Head of Department of Developmental Neurobiology at King’s IoPPN

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