#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 In The News

Staring into the unknown: Ringgold family’s son battles rare genetic disorder

This week we are featuring KIF1A superhero Bryce! Recently, Bryce and his parents, Krystalyn and Matt, have appeared in many interviews for their local news stations to tell people about our urgent mission at KIF1A.ORG. Check out one of these features below!

Recent KIF1A-Related Research

Genetic aspects of pain and its variability in the human population

Did you know that the most common reason people seek medical consultation is for feelings of pain? Given that there are so many factors and causes that result in people feeling pain, such as gender, environment, stress, ethnicity, and so much more, it’s no surprise that concerns about pain make up a majority of the visits at healthcare facilities. Additionally, research has shown that acute and chronic pain is experienced by about 5-20% of the population, respectively, causing expenses centered around pain and pain management in healthcare budgets to skyrocket. Therefore, being able to have a better understanding of pain, its causes, and how to treat each case individually would be extremely beneficial to both patients and the healthcare system. 

In this article, the authors discuss the research that has been conducted to identify causative agents for pain, such as genetic disorders and clinical syndromes that include single or multiple gene mutations. Of the many genetic disorders listed, KIF1A variants were mentioned and shown to cause deficits of sensation by impairing the transmission of pain. From the data reported by these researchers, mutations in KIF1A can be associated with the loss of pain sensation. Increasing our understanding of this KAND symptom can be helpful to uncovering the underlying mechanisms involved in the pain felt by these patients. In addition to mentioning KIF1A, these authors go into detail about other disorders where pain is prevalent, such as fibromyalgia, migraines, and more, to determine the ways in which scientists can improve the quality of life of those experiencing chronic and/or acute pain. Currently, there is a lack of literature that studies the relation of pain caused by KIF1A variants, but this article is a step in the right direction. Complementing these published papers studying pain with anecdotal experiences reported from the KAND community gives us a more comprehensive understanding of how pain is felt in KAND patients. To learn more about pain and its spectrum of variability, check out the article and video below!

Rare Disease News

A single injection reverses blindness in patient with rare genetic disorder

What if all it took to reverse blindness was one injection? In a case of severe visual impairment caused by a rare disease called Leber congenital amaurosis (LCA), that was exactly what happened! LCA is a rare genetic eye disorder that affects the retina and results in childhood blindness. In this article, researchers at the University of Pennsylvania designed a treatment for patients with LCA, specifically those that have a mutation in their CEP290 gene, by injecting a RNA therapy called sepofarsen into their eyes. Once in the eye, the RNA molecule increases CEP290 levels to improve patients’ vision. Usually, patients would need to get sepofarsen injections every three months to maintain vision gains, but for one particular patient, it only took one injection to see sustained vision improvements for over 15 months! This miraculous and unexpected outcome gives researchers further insight on how these therapies could be applied to similar eye disorders for an extended amount of time. The success of this RNA therapy is due to the small size of the RNA molecules, which allows them to get into the nucleus of the cell to do their work without getting degraded too quickly. Altogether, this study provides new grounds and support for RNA-directed therapies that scientists are now considering to use as treatments for other genetic disorders. Want to learn more about this amazing discovery and RNA-directed therapies? Click on the article and video below!

FDA to Focus on Patients with Rare Diseases

As the saying goes, there is strength in numbers. With rare disease groups being individually small, the ability to combine efforts and involve other stakeholders is extremely powerful in addressing the unmet needs of this patient community. A key agency that recently got more involved in supporting the rare disease community is the United States Food and Drug Administration (FDA), who held a conference to discuss the importance of prioritizing rare disease product development. During this conference, the success of efforts to find a therapy for a rare lung disease called lymphangioleiomyomatosis (LAM) was highlighted and it was especially noted that the FDA played an integral role. FDA officials went further to stress how collaboration and working together were essential components to addressing the long-standing public health needs of rare disease patients. In addition, the FDA and the Orphan Products Grants Program issued a request for applications (RFA) seeking natural history studies in hopes that they will lead to clinical trials and accelerate the development of rare disease drugs and treatments. On top of that, the FDA revealed that the Center for Biologics Evaluation and Research (CBER) is working to create a “Bespoke Gene Therapy Consortium” to provide adeno-associated virus-based gene therapies for the rare disease community. Overall, this article highlights the important role that the FDA is taking to prioritize the medically unmet needs that rare disease patients have endured thus far. To read more about the FDA’s focus on rare diseases, check out the article below!

“There’s obviously a huge need for us to actually work together and leverage the comparative advantages of so many stakeholders in the ecosystem to be able to address these long-standing public health needs in rare diseases and in pediatrics.”

Vasum Peiris, MD, chief medical officer and director of pediatrics and special populations at the FDA’s Center for Devices and Radiological Health (CDRH)

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