#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 email@example.com.
Hemorrhagic shock and encephalopathy syndrome in a patient with a de novo heterozygous variant in KIF1A
***As a disclaimer, the summary below and full paper describes a severe clinical example of KAND manifestation, which can be distressing to read***
This week we are featuring a recent clinical report reviewing the case of a 3-year-old girl with a E253K variant in the KIF1A gene. In this paper, the authors give a comprehensive overview of many aspects of KAND, such as symptom onset, required clinical care to address symptoms, and additional diagnoses that have resulted since the E253K KIF1A mutation was identified in this patient. Many of the most highly reported symptoms of KAND were discussed, such as epilepsy, developmental delay, and neuropathy. This case report confirms a fact that many in our community know, which is that E253K can be a KIF1A variant with severe neurological features and systemic implications.
While clinical reports detailing severe cases of KAND may be distressing to read, it is also important to highlight how impactful these types of comprehensive reports can be to help us further our understanding of KAND progression over time. Sharing the types of information detailed in this report relies on participation and trust between patients/family members and clinical teams. If you or a loved one are interested or want to learn more about participating in KAND-specific research, we encourage you to learn more about the KIF1A Natural History Study at Columbia University Medical Center below. Families affected by KAND are a core member of our research team and your participation in this study directly advances KIF1A research – we need you to help find better care, treatments and cures!
Of Hope and Miracles
As we are all transitioning into the new year of 2022, many of us have taken the time to sit back and reflect on all that has happened over the course of 2021. This week, we are sharing a blog-style reflection from Neena Nizar, EdD, founder and president of The Jansen’s Foundation, that discusses important topics from 2021, such as the power of advocacy, lessons from COVID, the need for collective urgency, and hope in a hard year. Take a moment to read through this great piece by clicking the button below. Thank you to Neena for your beautifully articulated thoughts and ideas to start off this new year on a strong foot.
Accelerating treatments for rare diseases requires collective urgency. Rare needs a Covid response: quality communication between patients, researchers, and medical professionals; open access to digital information, and decentralized clinical trial and studies.Neena Nizar, EdD
New neural network for more accurate DNA editing
When considering important characteristics of a therapeutic tool designed for precision medicine, accuracy is at the top on our minds. In other words, therapeutic development teams want to ensure that their therapeutic tools are performing their job in the manner and location in which it is needed. With CRISPR gene editing being such a powerful force in the future of genetic editing it makes sense that research teams, like the one in this article from the Center for Life Sciences, Skolkovo Institute of Science and Technology, are figuring out new ways to ensure that this type of genetic editing is as accurate as possible. How are they doing this? They are utilizing neural networks, which are computer-based systems inspired by the biological networks of neurons to help replicate what is going on inside of our brains! Neural networks are very useful to help researchers uncover hidden patterns or commonality between data sets, which are necessary to advance nervous system focused therapeutic tools. Want to learn more about this project? Click on the button below!