#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


Kinesin motor proteins like KIF1A have complex factors that regulate their ability to participate in cargo transport. But, did you know that kinesins themselves can self-regulate and influence their own transport? In a recent paper published by researchers from the University of California, Irvine, scientists discuss how intracellular transport is enhanced in terms of kinesin engagement with the microtubule track, and distanced walked along the microtubule, by the diffusion of the motors on its cargo. What exactly is diffusion? It is the spreading of particles more widely in an area, which in this case is the spreading of kinesin motors attached across the surface of its cargo. Although a majority of the experiments were conducted on kinesin-1 proteins because of its well characterization, the results can bring insight and raise similar questions across all kinesins, including Kinesin-3 and particularly KIF1A. As different KAND variants can affect KIF1A binding and run lengths, it is valuable to know what processes can enhance these characteristics. 

With previous research around kinesins focusing on cargos with rigidly attached motors, these researchers shifted the concentration to cargos with different motor organization. They conducted a computational (computer-based) study to investigate transport outcomes of kinesin cargos and found that motor organization has a significant impact on many kinesin motor properties. With their comprehensive model accounting for cargo, motor, and environmental properties, they concluded that cargos with freely diffusing motors have faster binding and more efficient transport when compared to cargos with rigid motors. Why is that, you may ask? A possible explanation for this observation could be that the diffusion of motors occurs fast enough across the cargo to accelerate motor binding. Overall, this paper reveals that there are many factors that influence intracellular transport with one of them being the organization of the motors itself. Although these results are not discussed in KIF1A, this data demonstrates that understanding the different influences on transport could help to uncover the underlying mechanisms that most or all kinesins may share. To read more about this study, click on the article below!

Rare Disease News


Seeing that Rare Disease Day is this Sunday, February 28th, it is a great time to celebrate the rare disease community and reflect on the amazing progress that has been made to advance pharmaceutical drug developments! With over 350 million people affected by rare diseases worldwide, many more are recognizing the significant burden that these illnesses bring and are calling for increased translational research and orphan drug development to combat the obstacles of limited resources and treatments.

As a quick reminder, orphan drugs are medicinal products that are used to treat rare disorders, which are less pursued by pharmaceutical companies because of their limited market value. Now with a heavy push for orphan drug development, the combined advancements in technology and research have further enhanced potential treatment and therapeutic strategies for rare diseases. 

As mentioned in the article, the areas that have seen a lot of progress in the past two decades are small molecule therapies, antibody therapies, protein replacement therapies, and oligonucleotide therapies. These terms may sound unfamiliar, so to give a little more background, let’s dive deeper into each therapy and its benefits. To start off, small molecule therapies involve a drug that can easily enter cells due to its small size and can then interact with other molecules within the cell to help alleviate symptoms. They are ideal therapeutic agents because they are stable, can be administered in multiple routes, and are usually less costly. Secondly, antibody therapies, more specifically monoclonal antibody (MAb) based therapies, is a form of immunotherapy where antibodies are used to bind to specific cells or proteins to trigger a patient’s immune system to attack the bad cells. They have high specificity to minimize the risks of off-target toxicity and are stable in in vivo conditions to allow for infrequent dosing schedules. When talking about protein replacement therapies, the benefits are linked to rare diseases characterized with the loss of function of a particular protein, as this form of therapy either supplements or replaces the deficient or absent protein in patients to help counter the effects. Lastly, oligonucleotide therapies are used to alter mRNA expression by targeting specific mRNA fragments in patients and is valuable because of its ability to reach targets that are often inaccessible when using traditional therapies. All in all, the developments with orphan drugs are promising, yet there are still gaps to be filled. This gives opportunities for researchers, clinicians, the government, pharmaceutical companies, and rare disease organizations to band together to continue pushing for these therapeutic treatments and to also look for agents that have global effects to address multiple rare disorders at once. To read more about these advancements in pharmacological treatments, click on the article below! Want to learn more about orphan drugs? Check out the video as well!


By April 2003, around 3 billion base pairs of the human genome were sequenced by the collective work of more than 2,800 researchers! You might ask, what may the significance of this be for us? Well, this massive project has greatly advanced the field of medicine by providing a detailed resource that contains information about the structure, organization, and function of human genes. With this knowledge, health care providers are now better equipped to diagnose, prevent, and treat diseases, especially for those in the rare disease community. As rare diseases were uncommon, it was difficult to come to an accurate diagnosis in a timely manner because of the laborious work of cloning, analyzing DNA fragments, and deciphering the variability of symptoms present in clinical settings. However, the completion of the Human Genome Project allowed for the ability to identify possible disease-causing variants more rapidly, which helped tremendously with rare disease and complex common disease diagnoses.

Additionally, this tool is also beneficial in reproductive empowerment in the form of carrier screening to determine if a parent will pass on a copy of a genetic variant to their child. Therefore, the human genome sequence has drastically transformed our ability to identify disease-causing variants, which gives us a glimpse of a future where genome sequencing is universally accessible and the known genetic cause of diseases will be made more readily available to patients. To learn more about the impact of the Human Genome Project, check out the article and video below!

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