#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

Kinesin-3 mediated axonal delivery of presynaptic neurexin stabilizes dendritic spines and postsynaptic components

In many of our Science Saturday posts, we talk about the importance of effective communication in the nervous system. But how exactly do the neurons in our nervous system send messages to each other for optimal nervous system function? One such way is through the establishment of neural circuits. You can think of a neural circuit as a group of neurons that are intimately connected by synapses (a junction between neurons in which information can be passed along) and carry out a specific function when activated, or turned “on.” In the pre-print article we are featuring today, researchers at the University of Massachusetts Medical School and Albert Einstein College of Medicine are clarifying what helps to stabilize neuronal circuits in a type of C. elegans (worm) neuron. One key player identified in this study is a protein called neurexin. Neurexin is considered an adhesion protein and, like the name suggests, is known to have “adhesive” properties to help parts of cells stick together. A cellular glue!

Now, where does KIF1A fit into this story? Well, it turns out that UNC-104, the C. elegans (worm) version of KIF1A, plays an important role in transporting neurexin to the right place at the right time to help maintain the synapses needed in neuronal circuits. This is yet another example in the literature that highlights KIF1A’s critical role in transporting cellular components all around the neuron to keep our nervous systems functioning optimally. Looking to dive deeper and learn more about how our neurons can communicate with each other? Check out the video below!

Rare Roundup

Moderna donates ultra-rare disease therapy to nonprofit founded by late Takeda R&D chief

The company Moderna has become a household name of sorts over the past year, due to their successful development of a vaccine against COVID-19. Now, in an unprecedented manner, the powerhouse entity Moderna has donated a new mRNA therapy to the Institute for Life Changing Medicines, a non-profit organization that identifies, develops and promotes access to life changing medicines for diseases that are not considered commercially viable. Amazingly, this donation comes with no upfront fees or downstream payments. The aim of this collaboration is to make an mRNA therapy available at no cost to patients impacted by Crigler-Najjar Syndrome 1, an ultra-rare disease that impairs liver function. For those of us involved with or affected by rare disease therapeutic development, we are aware of the painful reality of how financial limitations and barriers can hold back populations of rare disease patients from receiving life-saving treatment. With largely impactful companies like Moderna adopting this donation-based format of rare disease therapeutic development, we are hopeful that other companies will begin to follow. To learn more about Crigler-Najjar syndrome Type 1, check out the video below.

Gene Therapy Basics

We’re working relentlessly to create a future where gene therapies are available to patients living with KIF1A Associated Neurological Disorder. But what is gene therapy? Watch this short clip from the American Society of Gene & Cell Therapy to find out.

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