#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 Associate Aileen Lam and Chief Science Officer Dr. Dominique Lessard. Send news suggestions to our team at firstname.lastname@example.org.
Recent KIF1A-Related Research
Cytoskeletal regulation guides neuronal trafficking to effectively supply the synapse
Recently, two incredible members from our Research Network, Dr. Jayne Aiken and Dr. Erika Holzbaur, published a comprehensive review that details the current understanding of the cytoskeletal environment and how its regulation facilitates neuronal trafficking! For a quick memory refresher, the cytoskeleton is a structure that helps maintain the shape and organization of cells. It is also a dynamic network that aids in critical functions such as movement, division, and cargo transport. These processes are absolutely essential for the proper development of the brain and require specialized and highly regulated maintenance.
In this paper, these researchers discuss the many strategies that are used by elements in the cytoskeleton to carry out the intricate connections between neurons that are responsible for important brain function. They discuss in depth how the organization of microtubules, the tracks that motor proteins travel on to transport cargo, are essential for directing traffic. Additionally, post translational modifications, which are changes that can be made to proteins after they have been formed, can influence transport and overall neuronal connections. Similarly, microtubule associated proteins have the same effect in regulating these processes. Major components that play a huge role in neuronal trafficking are motor proteins, such as kinesin and dynein that help transport cargo, and mitochondria, which are organelles that help supply the energy to carry out these functions. As KIF1A is a critical motor protein that aids in transport and facilitating neuronal connections within the brain, gaining further insight into these diverse mechanisms that regulate trafficking is extremely important. With the complexity associated with these processes, uncovering the underlying roles of these cytoskeletal elements will give us a better idea on what affects and leads to disease states. For more thorough details and explanations of these factors, check out the review linked below! Want to learn more about the cytoskeleton? Click on the video!
Rare Disease News
Repurposing Drugs: The Key to a Healthier Future
Reduce, reuse, and repurpose! With recent increased advancements in technology, the discovery and development of repurposed drugs is becoming an industry that is growing rapidly. Data published by the European Medicines Agency (EMA) show strong evidence for the prevalence of repurposing activity, as the portion of repurposed medicines recommended for approval by the EMA rose from 50% to 60% from 2018 to 2020. Many are shifting more focus to repurposing drugs for a number of reasons. With many biological targets already identified, finding new areas to target is becoming increasingly more difficult. Therefore, finding use for already existing drugs that have marketing and regulatory approval is less challenging and can be more efficient. Additionally, improved AI systems promote repurposing, as these new advancements allow for more streamlined approaches to process large amounts of patient data. This technology helps to identify other uses for already existing drugs that can be more beneficial and have higher efficacy levels for other patient groups. With the market for drug repurposing on the rise, regulation and protecting innovation are important factors to consider in order to continue encouraging industries to focus on using this approach when looking at treatments for diseases. Overall, the potential to identify new life-saving treatments for diseases that currently have no cure by using repurposed drugs can be extremely beneficial to many patient groups, especially those in the rare disease community. To read more about this up and coming rise in the drug repurposing industry, check out the article and video below!
Why These Two Scientists Are Teaming Up to Study, Treat & Prevent Rare Pediatric Diseases
As the saying goes, team work makes the dream work! Working to combine their brains and passions, two physician-scientists, Rebecca and Elizabeth, are teaming up to treat and prevent rare neurodegenerative diseases that are afflicting children. This amazing duo solved their first pediatric rare disease case together while they were training, parted ways to further study rare pediatric diseases, and came back to lead their own labs that were located right next to each other! Teaming up yet again, these two scientists are working in CZI’s Neurodegeneration Challenge Network Collaborative Pairs program to identify 100 children with rare neurological disorders across the globe! With neurodegenerative diseases on the rise worldwide, these collaborative efforts are much needed, as their ultimate goal is to uncover new scientific grounds that could help understand a wide range of neurological diseases that will eventually lead to cures, therapies, and treatments. To read more about the story behind this phenomenal pair of researchers, click on the article below!