#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.

Recent KIF1A-Related Research

Molecular Assembly and Structural Plasticity of Sensory Ribbon Synapses—A Presynaptic Perspective

While we commonly discuss the role of KIF1A in the brain, eye and motor neurons, today we are sharing an article that explores a new part of our bodies: KIF1A’s role in the ear! This intricate and complex organ is responsible for both hearing and balance in mammals. The ear also contains a special type of cell known as a hair cell (because these cells have “hair-like” protrusions on one end; see picture below) that are key for helping our brains understand and locate sound. This is achieved when soundwaves “push” on the hairs of hair cells, which initiate an avalanche of cellular processes, one of which is kinesin-mediated cellular transport. What does this mean? In other words, once hair cells get a little nudge from a loud sound, they tell our brains to snap into action mode and start translating the physical sound waves into the language that our nervous system understands.

A scanning electron microscope image of hair cells. Credit: Peter Barr-Gillespie and Kateri Spinelli, Oregon Health & Science University, Portland

In this review paper, the authors discuss the role of hair cells in synaptogenesis (the creation of new synapses) and identify molecular players that are important for this process. What caught our eye about this paper? KIF1A, of course! Long-distance microtubule-based cargo transport (a hallmark function of KIF1A) is necessary process in hair cells. This paper goes on to describe KIF1A’s suspected role in the transport of “cytosolic ribbon precursors” that are considered to be “building blocks” for new synapses. This is yet another organ in which KIF1A plays an important role helping us to further understand the global importance of KIF1A in our bodies. Want to learn more about how our ears work? Check out the video below!

Rare Disease News

Rare diseases band together toward change in research

This paper by Nature Medicine hits close to home and is an homage to the patients and their families for their relentless efforts and dedication. The focus is placed on the power and forward progression of patient and family led advocacy groups for the rare disease community, following specifically the CureGRIN Foundation, AKU Society, and Castleman Disease Collaborative Network. As mentioned in the article, geographic barriers that previously prevented researchers and rare disease patients from collaborating are now overcome with the advances of social media. Additionally, with genome sequencing more readily available to help with diagnoses, there has been an increase in numbers of those diagnosed in the rare disease community. Although the widespread usage of the internet and technology has helped push forward these connections, the driving forces that led to the astounding successes in raising awareness and finding treatments are the patients and families actively involved. Those in the rare disease community who are directly affected are making it their mission to be part of the solution by taking the lead to connect clinicians and researchers and providing resources to help bridge gaps in order to accelerate efforts in finding cures. 

The KAND Community is not alone in the journey to finding treatment for a rare disease. Below is a heartwarming video made by those from the CureGRIN Foundation, one of the patient-led advocacy groups and research networks that has seen much success due to the dedication of their patients and patients’ families. To learn more about the growing efforts in the rare disease community, click the button below to read the full article. While you’re there, check out the video to see how similar and relatable our community missions are with other advocacy groups, as we all take a step in the forward direction!

A gene mutation that protects against disease

What do rare genetic mutations and the proverbial fountain of youth have in common? Apparently, the connection lies in the PCSK9 gene in a small subset of French-Canadian families. PCSK9 is a protein in our bodies that plays a role in regulating the amount of cholesterol in our bloodstream. The specific mutation PCSK9 mutation, known as PCSK9Q152H, was initially proposed to prevent or mitigate certain types of cardiovascular disease. However upon further investigation, researchers now believe that this mutation may protect the human body from a range of other diseases, most notably liver disease. What can be learned from such a unique mutation? Researchers are now trying to understand if this “fountain of youth” knowledge could be applied to a gene therapy approach. Specifically, they want to know if a targeted introduction of this mutant PCSK9 protein could “offer an innovative treatment for a number of diseases that normally lead to early death.” To learn more about this fascinating story, click the button below!

“These results from Dr. Austin’s group are particularly gratifying since they experimentally explain that this gene mutation, known to lower cardiovascular accidents, also protects against liver injury and dysfunction, even in individuals who are in their late 80s and mid-90s…, these findings should allow us to determine whether this unique mutation provides additional protection against liver diseases such as cancer, over and above its protective effect against cardiovascular accidents.”

Michel Chrétien, emeritus professor at the University of Montreal

Part 4-Gene Therapy: An Industry Perspective

We’re following a four-part series on Global Genes’ RARE Cast podcast about gene therapy. The fourth and final episode of this series features Dr. P.J. Brooks, program director in the Office of Rare Disease Research at the National Center for Advancing Translational Sciences (NCATS). In this interview, Dr. Brooks goes into detail about NCATS’ Platform Vector Gene Therapy (PaVe-GT) program, creating a tool-kit for “plug-and-play” gene vectors, ways to alter the cost of development for rare and ultra-rare gene therapies, and the role of FDA in gene therapy approval.

“…there is converging interest both from our [NCATS] perspective, the patient perspective, the regulatory perspective and even, ultimately, the industry perspective to do things different… we are hopeful that we will be able to do that…”

Dr. P.J. Brooks, program director in the Office of Rare Disease Research at the National Center for Advancing Translational Sciences (NCATS)

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