#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 and Chief Science Officer Dr. Dominique Lessard. Send news suggestions to our team at impact@kif1a.org.

KIF1A.ORG In the News!

Breakthrough discovery in gene causing severe nerve conditions

About three months ago we shared a new KIF1A/KAND related paper made possible by many researchers in our Research Network and spearheaded by Dr. Simran Kaur (Christodoulou Lab at Murdoch Children’s Research Institute). We are not the only ones excited about these research discoveries as this impactful work is now being featured in the world of breaking science news! Congratulations again to the entire team of dedicated KIF1A scientists who made this project possible. We are proud of and thankful for YOU!

Recent KIF1A-Related Research

Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity

This week we are pleased to highlight another study that communicates the link between genome-sequencing and accurate diagnostic testing for the rare disease community. The main question of this study out of The Hospital for Sick Children in Toronto Canada asks: how many children with previous negative genetic testing results and unexplained and complex medical symptoms receive a new diagnosis after genome sequencing? This question has a lot of components so let’s break it down. First, this study is following a cohort of patients that have received some sort of genetic testing (be it a panel test, microarray analysis, exome sequencing, etc.) but have not undergone sequencing of their entire genome (reading the entirety of one’s genetic code). Next, after this cohort underwent genomic sequencing as a part of this study, the author assessed how many patients received a new (and often times more accurate) diagnosis, specifically looking at the diagnosis of rare and novel genetic disorders. So, of this cohort, how many ended up with this new diagnosis after sequencing of their genomes? It turns out that a lot of them did, ~31% to be exact! Furthermore, KIF1A is discussed in this article as an example of a gene that commonly reported at a VUS or a “variant of unknown significance,” highlighting how standard genome sequencing could aid in KAND diagnosis. Thank you to the authors of this study for highlighting the importance of genome sequencing in rare disease diagnostic criteria!

Rare Disease News

The mysterious, multifaceted cerebellum

The cerebellum is a critically important structure in our brains that is often credited to coordinate bodily movement. In the context of KAND, we are always interested in learning more about the cerebellum as cerebellar atrophy is a hallmark of KAND-related neurodegeneration for many in our community. The article provides a fantastic historical overview of how our understanding of the cerebellum’s role in the brain is constantly changing and adapting. For instance, at one point in time it was thought that the cerebellum’s only role was to coordinate movement. However, now we know that this brain structure is important for so many other functions and roles in our body. Enjoy this deep-dive article to get caught up on all things cerebellum, or “little brain” as it is known in Latin. As an aside, the cerebellum is just one very important structure that makes up our brain. Check out the video below to learn more about the other structures in our brain!

2 Scientists Awarded Nobel Prize In Chemistry For Genome Editing Research

It’s awards season this fall and no we aren’t talking about the Emmy’s! This week featured announcements of the 2020 Nobel Prize winners across 5 out of 6 categories. One announcement that caught our eye was the 2020 Nobel Prize for Chemistry awarded to Dr. Jennifer Doudna (University of California, Berkeley) and Dr. Emmanuelle Charpentier (Max Plank Institute) for discovering one of our favorite discussion points as of late… CRISPR! Congratulations to these two phenomenal and ground breaking scientists who also happen to be the first all-women team to share a Nobel Prize in Chemistry. Your contributions have already made a significant impact on the rare disease community and will continue to do so for generations to come!

This technology has had a revolutionary impact on the life sciences, is contributing to new cancer therapies and may make the dream of curing inherited diseases come true”

How the Brain May Fuel Intense Neural Communication

You may hear the word “metabolism” thrown around a lot when it comes to food choices, lifestyle, and even genetic factors that affect the general human body. But what does metabolism mean in the context of the human brain? Briefly, you can think of metabolism as the process by which our body turns what we eat and drink into usable energy sources. Being that the brain is such an important organ for controlling bodily functions, it makes sense that the brain needs to use a very large percentage of our body’s energy sources to function optimally. In adults it is estimated that the brain consumes ~20% of the body’s energy while in children this can be as high as 50%! This article covers a new research discovery out of NIH’s National Institute of Neurological Disorders and Stroke. In this study, researchers investigated how certain chemical reactions in our brains act as a communication signal for more energy. Cellular energy stores are replenished by mitochondria, a cellular component that generates ATP (a cellular fuel source, also needed for KIF1A movement!). Furthermore, this study reveals that intense moments of communication between nerve cells in the brain require a lot of energy and that mitochondria are recruited to these points of communication to restore energy levels. Want to learn more about mitochondria? Here’s a short video!

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