#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 impact@kif1a.org.

Recent KIF1A-Related Research

Cohort Analysis of 67 Charcot-Marie-Tooth Italian Patients: Identification of New Mutations and Broadening of Phenotype Expression Produced by Rare Variants

It seems like almost every week we have a new publication to report on that has used diagnostic genetic sequencing to identify KIF1A mutations in unexpected places/diseases. This week we are sharing yet another diagnostic study from a group of researchers in Italy. This study focused on identifying genes that cause a disease known as Charcot-Marie-Tooth (CMT). CMT is defined as a group of hereditary (passed from parent to offspring) disorders that cause damage to the peripheral nerves of the arms and legs. 67 patients with a clinical diagnosis of CMT were enrolled in this study aiming to analyze genes known to be related to the disease. After ruling out a well-known genetic cause of CMT (duplication of the PMP22 gene), eight patients, or almost 20% of the cohort, were identified to have pathogenic or likely pathogenic variants of specific genes. As you may have guessed, one of the genes identified in this study was… KIF1A! Specifically, this study identified a 67-year-old male with a R1778W KIF1A variant. Unlike the many recorded de novo KIF1A variants that occur spontaneously in an individual, this variant does seem to have a hereditary component as this individual’s brother is also affected.

Now time for a big picture question… WHY does KIF1A keep showing up in so many genetic screens for other neurological diseases? Well, in a way it confirms some facts that we already know. First, we know that KIF1A is a very important protein for our nervous systems to function optimally. If something is awry with a KIF1A protein, the odds are high that it could manifest in a disease state. Additionally, we know that many diseases, especially rare neurological diseases, have overlapping symptoms and can even have overlapping causative genes! As we learn more about each of these diseases we continually shift and adjust our understanding of how they all fit together. Lastly, we know (and actively advocate for) KIF1A being added to more and more genetic screening panels. As KIF1A screening is on the rise, we are starting to see more “hits”! Want to learn more? Click on the button below!

Rare Disease News

Ethical Issues: Unproven Stem Cell Products

The American Society of Gene & Cell Therapy created a new resource for patients and families considering cell therapies that may be offered by unregulated clinics. During the 2021 KAND Family and Scientific Engagement Conference, Wendy Chung, MD, PhD, Chief of Clinical Genetics Division in Pediatrics & Principal Investigator at Columbia University, and core Research Network member of the KIF1A.ORG community, strongly advised against pursing unproven and potentially dangerous treatments. In this new resource, ASGCT provides clear and helpful tips for patients and families searching for legitimate clinical trial opportunities and common red flags to watch for.

Listen: Priscilla Chan on pediatric biology and research: ‘Children are not tiny adults’

This week, we are highlighting an interview with Priscilla Chan, co-founder and CEO of the Chan Zuckerberg Initiative, that is centered around the urgent need for more single-cell research in pediatrics. In this interview, Chan pulls from her professional and personal experience to discuss topics such as challenges for rare disease patients and families, single cell biology and why it is important for pediatric research, and how the scientific community can work together to solve complex biological questions. Click the audio player below to have a listen and enjoy!

“…these rare or ultra-rare diseases are actual windows into human cell biology. They often present in children because it’s really a unique change from the normal human biology that then presents in a specific phenotype… the very interesting thing is, because you often have these specific changes in rare and ultra-rare disease, you then have these natural manifestations of what it means for one part of an organ system or cell type to be not working properly… if we can actually then plug in scientists to study those questions, you have a beautiful example of how to both learn in depth about how the human body works and you have an opportunity to [develop answers]…”

 Priscilla Chan, co-founder and CEO of the Chan Zuckerberg Initiative

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