#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 impact@kif1a.org.
KIF1A.ORG Year in Review: 2020 Impact
Another year has come and gone, and despite the changes and challenges that this year brought for many, the KIF1A.ORG community continued to experience exponential growth thanks to people like you. Real growth. Tangible growth. Growth that will allow THIS generation of individuals living with KIF1A Associated Neurological Disorder (KAND) to realize dreams, gain independence and enjoy a healthy future.
Head over to the KIF1A.ORG blog by clicking the button below to take a look at the remarkable progress we’ve made together in 2020. Thanks to you, we’re more optimistic and relentless than ever as we head into 2021.
We look forward to continuing our partnership with you—families, researchers, clinicians and supporters—to make 2021 a monumental year. Whatever role you play in our community, we need you. Thank you for all that you do to help us realize our mission for KIF1A superheroes everywhere.
KIF1A-Related Research: From the Archives
Defect in Synaptic Vesicle Precursor Transport and Neuronal Cell Death in KIF1A Motor Protein–deficient Mice
We are throwing it back to the 1990s this week to feature another KIF1A-releated study from the archives! At the time of this publication, KIF1A was a very recently discovered motor protein. Researchers knew that KIF1A was primarily found in the nervous system and that it was likely responsible for transporting synaptic vesicle precursors, a critical cargo for neuronal health. With the goal to further understand the importance of KIF1A in the nervous system (using a mouse model) researchers asked a simple question: if they took KIF1A out of the nervous system… what would happen? Would they observe any drastic changes or would there be no observable difference on nervous system function?
To remove KIF1A, researchers used a technique known as targeted disruption. In this case, this genetic form of experimentation prevented the KIF1A protein from being made. Without a KIF1A protein in mice, what was observed? Researchers found that the absence of KIF1A lead to a slew of developmental impairments, such as motor and sensory disturbances in young mice. Furthermore, this study confirmed that KIF1A was essential for transporting and delivering synaptic vesicle precursor proteins. Lastly, without KIF1A it was found that neurons underwent significant neurodegeneration and lead to increased incidence of neuronal death. Looking back, we learned a lot about the importance of KIF1A in the nervous system from this study. Want to learn more about a synaptic transmission? Check out the video below!
Rare Disease News
THE ONCE AND FUTURE GENE THERAPY
A world where there is talk of genome editing and a novel way to deliver particles in the body to regulate gene expression, who would’ve imagined?! Recent advancements in gene therapy have not only changed the lives of affected individuals, but also inspire, motivate, and lay a foundation for future developments in the field concerning other health conditions. For instance, a breakthrough for successful in vivo virus-associated gene transfer, initially in the human retina and central nervous system, was expanded to therapies in the liver and skeletal muscle. In addition, improvements in technology played a major role in accelerating gene therapy progress in treating human disease. As surpassing the immune system with these therapies continues to be a barrier, next-generation technology helps make this feat possible by circumventing this obstacle and avoiding an immune response, further broadening the scope and effectiveness of gene delivery methods. Efforts to engineer and profile non-viral nanoparticles for gene delivery have also expanded the functionality of these treatments, as more critical areas can be targeted. In regard to gene editing, its evolution has progressed from its initial clinical trials of CRISPR-based gene editing for sickle cell disease. Currently, scientists are looking at virus-based gene editing in the retina and non-viral particle delivery of CRISPR to the liver. As of now, scientists are working to improve the specificity, accuracy, and efficiency of gene editing technologies and are also looking to gain more insight on the regulation of the human genome by investigating the function of non-coding DNA. These past years have been astounding milestones for the field of gene therapy and the future direction of these endeavors look incredibly promising in tackling the obstacles seen in human disease. If you’re interested in learning more about this topic, click on the article and watch the video below!