#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 Science Communication Director Dr. Dominique Lessard. Send news suggestions to our team at impact@kif1a.org.

Recent KIF1A-Related Research

Postnatal role of the cytoskeleton in adult epileptogenesis

The cytoskeleton is a group of proteins responsible for the shape and structure of our cells, just like our skeletons shape our bodies! The cytoskeletal protein we reference most often is the microtubule, otherwise known as the roadways along which KIF1A transports cargo. This new review article asks a question that is very relevant to presenting KAND pathology: can mutations in cytoskeletal or cytoskeletal associating proteins (like KIF1A) be a causative factor in adult epilepsy? This article goes on to explore the role of cytoskeletal proteins in epileptogenesis, the process by which a brain develops hallmark symptoms of epilepsy. Encouragingly, the relationship between epilepsy and mutations in KIF1A and other kinesin motor proteins is discussed, highlighting the potential connection between molecular motors, the cellular cytoskeleton, and adult epilepsy.

Rare Disease News

A Year In, 1st Patient To Get Gene Editing For Sickle Cell Disease Is Thriving

When the ground-breaking CRISPR genome editing technology first emerged, many were hopeful that, one day, this technology would be used out of the laboratory setting and into a clinical setting. Now, what once seemed like a pipe dream is starting to become a therapeutic reality. This article tells the story of Victoria Gray, noted as “the first person with a genetic disorder to get treated in the United States with the revolutionary gene-editing technique called CRISPR”. Her treatment involved an infusion of billions of genetically engineered stem cells, aimed to treat sickle cell disease, a rare disorder of the red blood cells. Astoundingly, one year after her treatment, the complications of her disorder have been virtually eliminated. You can either read through this story or listen to the NPR segment by clicking the link below.

“The promising results are also encouraging other doctors and researchers, who hope CRISPR may also lead to new treatments for many diseases. Studies have already tested CRISPR to treat cancer and a rare genetic condition that causes blindness. CRISPR enables scientists to make changes in DNA much more easily than before.”

Genome editing with CRISPR–Cas nucleases, base editors, transposases and prime editors

We often share “review articles” in Science Saturday, but what does a review article actually entail? A review article summarizes our current understanding on a particular topic. In this edition of Science Saturday, we are featuring a review article that covers everything you need to know about current trends in CRISPR-Cas mediated genome editing. There are four types of CRISPR-Cas genome editors- nucleases, base editors, transposases, and prime editors. This article discusses the capabilities and limitations of these four editors as well as the rapid evolution of genome editing technology. When reading about genome editing, you may hear the words “genetics” and “genomics” used frequently. Have a look at this short video below from our friends at The Jackson Laboratory that describes the difference between these two words.

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