#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

This week we are featuring TWO KIF1A superheroes, Turner and Harlin! Thank you to their local news stations for sharing their stories and spreading awareness about KAND. The hear more about their stories, click the buttons below!

‘You pray that there’s a treatment that can help’: Inside a Colorado family’s experience with rare disease

Hope for Harlin: Cape Girardeau Co. toddler battles rare condition

Recent KIF1A-Related Research

Recent Advances in Neuroimaging of Epilepsy 

Many neurological disorders share the common clinical symptom of epilepsy, a condition of the brain that causes seizures, or uncontrollable electrical brain activities that affect movement and behavior. With advances in neuroimaging, scientists are now better equipped to study epilepsy and learn more about the mechanisms involved in order to help alleviate the harmful effects of seizures on the brain. 

In this comprehensive review, the authors discuss the advantages that noninvasive neuroimaging tools provide in understanding the biological basis of human epilepsy. They go into detail about the technological advancements allowing scientists to better analyze epilepsy in the brain by further defining the various techniques within the realm of magnetic resonance imaging (MRI). An MRI is a neuroimaging tool that uses a magnetic field and radio waves generated by a computer to provide scientists and clinicians with a high resolution image of the brain that can ultimately help with diagnosis. In addition to their discussion about MRI-based tools, these authors highlight two techniques, graph theory and machine learning, that are used in group-level analysis to gain more insight on how epilepsy is distributed through the brain. Graph theory helps increase the understanding of how brain networks are disrupted in epilepsy and machine learning uses artificial intelligence technology to classify neuroimaging data in order to identify brain networks and predict surgical outcomes. Lastly, the review addresses the importance of using these neuroimaging techniques and advancements to also study psychiatric conditions. From this, scientists will have a better understanding of the relationship between epilepsy and mental health and their concurrent manifestations and effects on patient health. As neurological disorders like KAND result in patients experiencing epilepsy, these advancements in neuroimaging are extremely important in helping researchers more quickly elucidate the underlying mechanisms involved. With this added insight, scientists will be better informed on how to develop therapeutics that will help maintain, treat, and alleviate these epileptic symptoms. To learn more about advances in neuroimaging, check out the article and video below!

Rare Disease News

Rare genetic disease caused by mutations in protein that controls RNA metabolism

As research continues to advance, we are learning more about human diseases and the underlying causes for them. In a paper published earlier this month, researchers detailed a genetic cause for a rare neurological disorder that is characterized by developmental delay and ataxia, or loss of coordination. To collect data from 30 patient families residing in 12 different countries, scientists took patient blood samples in order to isolate their cells, which were then reprogrammed into neurons for further studies. From this, 26 mutations in the GEMIN5 gene were identified to cause damage to the protein structure, leading to the manifestation of this rare neurological disease. GEMIN5 is known to be an important building block of a protein complex that controls RNA metabolism in neurons. This protein complex also plays a critical role in developing nerve cells called dendrites and axons, which are all essential structures that aid in proper brain function. Therefore, a mutation in GEMIN5, a component of this protein complex, would lead to neurological symptoms such as developmental delay and ataxia. By determining the cause for this rare neurological disorder, these researchers hope to encourage other scientists to have GEMIN5 on their radar and include this gene when they are testing for ataxic disorders. To read more about this new disease discovery, check out the article below!

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