#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 and Science Communication Director Dr. Dominique Lessard. Send news suggestions to our team at impact@kif1a.org.

Recent KIF1A-Related Research

Deletion of the Pseudorabies Virus gE/gI-US9p complex disrupts kinesin KIF1A and KIF5C recruitment during egress, and alters the properties of microtubule-dependent transport in vitro

As we progress through the COVID-19 pandemic, viral infection has understandably been a hot topic of conversation. While this article is not investigating a coronavirus, it is investigating the role that KIF1A plays in transporting the pseudorabies virus (PRV). This is not the first time we have discussed ways in which viruses can co-opt KIF1A machinery to transport viral particles. In fact, the more we learn about viral particle trafficking, the more KIF1A is seemingly linked to the process! This paper investigates two main concepts: 1) how much viral machinery is needed to “take over” the function of certain kinesin motors and 2) how do kinesin motors work together in this process? From this study, we learn that the two kinesin motors investigated in this study, KIF1A and KIF5C, both can transport PRV particles. However, they transport separate populations of PRV particles, and do not seems to work together in this process.

Rare Disease News

Rare Disease Therapy Development and Access Remain Top FDA Priorities During COVID-19

Now months into a global pandemic, the lives of many have been flipped upside down in unimaginable ways. As we know, this reality is especially true for the rare disease community. Fortunately, regulatory agencies like the FDA recognize how COVID-19 has already impeded progress of finding therapeutic treatments for rare diseases. This article covers a range of topics such as the impact of COVID-19 on rare disease communities, pharmaceutical supply chains and building clinical trial readiness. Most importantly, this article discusses ways in which the FDA is actively working to support the rare disease community amidst a global pandemic.

“The FDA’s work on behalf of people with rare diseases is more important than ever as these patients are among the most vulnerable to COVID-19, either directly or indirectly. Many rare disease patients also depend on reliable access to high quality, life-saving medications. While COVID-19 is a major public health priority, the FDA’s work to advance treatments for rare diseases and helping ensure continuity of care for people with rare diseases remain top priorities.”

Precision Genome Editing Enters the Modern Era

CRISPR-mediated base editing has been a breakthrough in genome editing technology. Through this method, scientists are able to correct single nucleotide DNA mutations in the laboratory. As a field, base editing is getting closer and closer to clinical applications. This article explains the process, challenges and future of base editing, among other concepts. As a bonus, check out this Ted Talk by Dr. David Liu, one of the pioneering scientists behind this technology, on how base editing could be used to cure genetic diseases.

First report of systemic delivery of micro-dystrophin gene therapy in children with DMD

The concept of gene therapy is a lot like trying to mail someone a package. First, you need to figure out the contents of the package; in the case of gene therapy this will be genetic material, like a gene. Next, you need to find the appropriately sized box for the contents of the package; when delivering genes, this is often referred to as a “vector.” However, what happens if you don’t have a big enough box? This problem often arises during the pre-clinical phase of investigation with large genes. This article discussed the challenges of working with dystrophin, a very large gene that when mutated can lead to Duchenne muscular dystrophy. To combat this issue, researchers have created a “micro-dystrophin” that can fit in a vector and alter gene expression.

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