#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

Glenwood Springs child suffers from rare neurological disorder without a cure or treatment

Originally diagnosed with cerebral palsy, it took years of persistence, a determined doctor, and genetic testing to get Turner’s KIF1A diagnosis. Click the button below to learn more about Turner’s diagnostic odyssey.

Recent KIF1A-Related Research

Quantitative proteomic analysis to identify differentially expressed proteins in patients with epilepsy

Around 50 million people worldwide suffer from epilepsy, a chronic condition of the brain that leads to the onset of multiple seizures. Currently, there is a need for identifiable biomarkers, or objective biological markers that can be measured to indicate the medical state of patients, to help with treatments. Recognizing this, researchers in Sweden set out to identify potential biomarkers of epilepsy and epileptogenesis (the process in which the brain develops epilepsy) in adults that were later diagnosed with epilepsy and had new-onset seizures. By determining accurate biomarkers that can be used to identify epilepsy in patients, the diagnosis process would prove to be quicker and more robust, allowing for more certainty in clinical practice and earlier treatment in patients. 

To conduct this study, researchers collected plasma samples from 55 adults with new-onset seizures where 63.6% were diagnosed with epilepsy and 36.4% had a single seizure. They then analyzed the plasma samples to evaluate the different protein levels of each patient for further comparisons of the two groups. From this, they detected a total of 1,075 different proteins and found that 41 proteins were significantly dysregulated in patients with epilepsy. Looking at the results from the study, these researchers have identified possible proteins that could be involved in the mechanisms associated with epileptogenesis, which could serve as potential biomarkers for the disorder and help with future clinical diagnosis. As one of the clinical symptoms of KAND is epilepsy, gaining insight on potential biomarkers to test for can also be helpful in the diagnostic process and understanding the underlying pathways involved. With the identification of biomarkers for KAND also in need, taking a similar approach to conduct a quantitative proteomic analysis could be beneficial in this endeavor. Click the button below to read more about this study. Additionally, you can learn more about biomarkers by watching the video below!

Rare Disease News

Working towards a new framework for rare diseases

As awareness for the rare disease community continues to grow, more progress is being made to address the many challenges that people living with a rare disease experience. However, despite on-going progress, there still remains a lot of work to be done for this community to receive the tailored care and accessibility they rightfully deserve. Therefore, organizations worldwide are dedicated to amplifying rare disease patient voices and are striving to drive research and policy endeavors. 

In a recent interview conducted by Health Europa Quarterly with Anna Kole, EURORDIS Public Health Policy Director, discussed key challenges that many rare disease patients face and new strategies that are currently being implemented to tackle these issues. In this conversation, Kole emphasized that the main hurdles many experience are delays to diagnosis, difficulty in finding experts on patients’ respective rare diseases, and the inability to maintain long-term coordinated care. Along this highlight, she also spoke about the impact that COVID-19 has had on the rare disease community and how care for patients could be improved. With the help of technological advancements, Kole also mentions that these capabilities will greatly help the community in their efforts to optimize data collection and sharing to speed up the diagnosis process. Lastly, she discusses a new policy framework that details the goals and recommendations that they have set for 2030 to overcome the obstacles that the rare diseases community is facing. Some of the main aims are directed towards integrating care more effectively, decreasing the time to diagnosis, making treatment available to a larger number of diseases, and many more. With policy frameworks like these in place, we hope to see the distribution of more equitable care for the rare disease community in the future! To read more, click on the article below!

Trust is key for the parents of children with rare diseases to live without anxiety

While being a parent already requires a lot of hard work and dedication, being a parent to a child with a rare disease comes with its unique joys and challenges. Often, parents would have to take on the role of caregivers, which can be overwhelming and difficult to balance with the many other responsibilities that come with parenthood alone. As a result, parents of children with rare diseases would report feelings of anxiety and uncertainty in navigating a world that encompasses these two roles. 

In efforts to address the sentiments that these parents may be feeling, a recent study was conducted by interviewing parents of children with rare diseases and it was found that trust was the key element to overcoming these fears and anxieties. The researchers from this study further explain that this trust is not just confined to the trust that parents place on medical professionals caring for their children. It is also trust in their own strength as parents to confront and tackle daily life side-by-side with their child. It is trust in the development of treatments and the adequacy of resources available. Lastly, it is trust in the community and the support they receive from other parents with similar circumstances. From this study, researchers concluded that having this trust allowed parents to confront their situation with a more positive outlook, which helped them overcome some of the anxiety, fear, and uncertainty that they may be feeling. When discussing this research with Kathryn Atchley, mom to Parker and President of KIF1A.ORG, she shared these thoughts:

I don’t think we talk enough about the impact rare disease has on parents and caregivers, so I really appreciate this research. One thing I wonder about though, is describing the time of diagnosis as a positive turning point for fears and anxieties of caregivers. I’m really not sure how common that sentiment would be in the KAND community. Maybe it’s because we are dealing with a neurodegenerative disease with no consensus on care guidelines or current treatments? For many, the KAND diagnosis brings more questions than answers, and even more uncertainty.

Want to read more about the details of this study? Check out the article below!

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