#ScienceSaturday posts share relevant and exciting scientific news with the KAND community, and are compiled by Alejandro Doval. Alejandro is from Spain and serves as Team Leader of the KIF1A.ORG parent-led Research Engagement Team. Send news suggestions to our team at impact@kif1a.org.

Recent KIF1A-Related Research

A Kinesin-3 recruitment complex facilitates axonal sorting of enveloped alpha herpesvirus capsids

We get excited every time we see new research being published on KIF1A. But not all KIF1A research has the same degree of relevance for what we really care about: KIF1A Associated Neurological Disorder (KAND).

The research reported in this paper focuses on how certain viruses can take advantage of KIF1A, a motor protein, for cargo sorting and transport (i.e. spreading viruses in the body). Remember, healthy KIF1A (i.e. not mutated like what we see in KAND) is known for being “extremely effective at cargo transport.” So, if a virus wants to get around, why not hijack the “Porsche of motor proteins”? While the findings reported in this paper may not have direct relevance on KAND, it does add to the understanding of KIF1A function as a whole.

Rare Disease News

FDA Continues Strong Support of Innovation in Development of Gene Therapy Products

This week the U.S. Food & Drug Administration (FDA) released six guidances on gene therapy to “to help advance the field of gene therapy while providing recommendations to help ensure that these innovative products meet the FDA’s standards for safety and effectiveness.” One of the guidance documents is “Human Gene Therapy for Rare Diseases,” which provides recommendations to gene therapy developers on everything from the manufacturing process to preclinical studies to clinical trials in humans.

“We understand and appreciate the tremendous impact that gene therapies can have on patients by potentially reversing the debilitating trajectory of diseases. These therapies, once only conceptual, are rapidly becoming a therapeutic reality for an increasing number of patients with a wide range of diseases, including rare genetic disorders and autoimmune diseases.”

Stephen M. Hahn, M.D., FDA Commissioner

Look for a future blog post from KIF1A.ORG discussing this new guidance and what it means for our Path to Treatment.

CRISPR gene-editing corrects muscular dystrophy in pigs

“Duchenne muscular dystrophy (DMD) is one of the most common and most devastating muscular diseases, greatly reducing patients’ quality of life and life expectancy. Now, researchers in Germany have managed to use the CRISPR gene-editing tool to correct the condition in pigs, bringing the treatment ever closer to human trials. …

In experiments in pigs, the researchers on the new study used CRISPR to correct the faulty dystrophin gene. That allowed the pigs to once again produce dystrophin proteins – although they were shorter than usual, they were still stable and functional. That improved the animals’ muscle function and life expectancy, and made them less likely to develop an irregular heartbeat.”

Prime Time for Genome Editing?

“Genome editing, like other molecular interventions, needs to overcome barriers to delivery as well as immunogenicity, and it is currently at the beginning stages of the same cycle of early-stage clinical trial–based optimization that was essential to the success of, for instance, an approved viral gene therapeutic for β-thalassemia. Prime editing is an impressive act of creativity by biochemists and bioengineers. I predict that the wave of such cross-disciplinary effort to accelerate the advance of editing to the clinic will, in the long term, overcome the technical barriers that lie in front of it.”

This article is a little more advanced than we typically like for some light #ScienceSaturday reading, but Dr. Fyodor Urnov of the Innovative Genomics Institute provides a brief explanation of how prime editing has made a “substantial upgrade to the toolbox of genome editing.” Introduced to the world in October 2019 by a team led by Dr. David Liu (check out our post here), prime editing is continuing to stir excitement in the scientific community. 

If you want a more patient/family-friendly explanation on prime editing, we really like this Snapshot created by SCAsource, which shares research news in plain language for the ataxia community.


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