#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.

We Are Hiring!

Perhaps against all odds, 2020 has been a year of growth for the KIF1A community. As our community grows, so do our needs and opportunities. We’re expanding the team at KIF1A.ORG to help continue driving this momentum. Thanks to financial support from the CZI Rare As One grant, we’ve created two new part-time positions at KIF1A.ORG:

Science Communication Associate: The KIF1A.ORG Science Communication Associate is responsible for assisting the KIF1A.ORG Chief Science Officer in the day-to-day operations of the organization’s scientific operations, including communications; administration; project management; and scientific investigation.

Administrative Manager: The KIF1A.ORG Administrative Manager is responsible for assisting the KIF1A.ORG President in the day-to-day operations of the organization, including the areas of fundraising and development; administration; and marketing and communications.

Recent KIF1A-Related Research

A Highly Conserved 310-Helix Within the Kinesin Motor Domain is Critical for Kinesin Function and Human Health

KIF1A.ORG is funding new research out of the McKenney Lab at University of California, Davis, and a pre-print was just posted this week to cover the initial research! This study focuses on a structural component of the KIF1A motor domain referred to as a PYRD/E motif in a 310 helix. This term is technical and may seem overwhelming, but is a very important concept. So… let’s break it down!

First, as a reminder a protein is made up of amino acid building blocks. A “motif” is a small section of amino acids that contribute to protein’s three-dimensional structure. In the case of the example above, this motif is made of four different amino acids each with their own unique shape: P (proline), Y (tryptophan), R (arginine), and either D (aspartate) or E (glutamate). This PYRD/E motif is part of a larger structure in the KIF1A motor domain called a helix. A helix is three-dimensional shape that is commonly found in protein structure and looks a lot like a curly lock of hair or a cord to a landline phone (remember those?). Adding one more layer of complexity, the type of helix discussed is known as a 310 helix. This type of helix is less commonly found in protein structure compared to other helices and has some very unique biological properties.

Now, what is this importance of this “PYRD/E motif in a 310 helix”? Well, it turns out that KAND mutations are found in 3 out of 4 amino acids in this motif in KIF1A and hereditary spastic paraplegia mutations (HSP) are found in 2 out of 4 amino acids in this motif in KIF5A. What we have here are two separate kinesin motors that share a specific structural element; when this structural element is mutated, it can present with very similar clinical phenotypes (KAND and HSP). This bolsters a theme that we have been discussing for many months now in Science Saturday: while KIF5A and KIF1A may perform different biological functions, mutations in common structural elements can manifest in similar ways on a clinical level.

To investigate the impact of PYRD/E motif mutation, the authors characterize the effect of one mutation in particular: P305L in KIF1A. The biggest effect seen in this scenario is the effect of the P305L mutation on KIF1A’s landing rate, or the ability to attach to the microtubule, giving us valuable information about the role of certain KIF1A structural elements in disease.

Of note, this paper finishes with an entire section focused on the implications of these findings for our understanding and treatment of KAND. McKenney Lab, from the bottom of our hearts, thank you for the work you do for our superheroes.

Rare Disease News

Scaling Up the Assault on Rare Diseases

Great news for our friends and partners at The Jackson Laboratory (JAX)! JAX was recently awarded a whopping $10.6 million grant from the U.S. National Institutes of Health. This five-year grant is focused on precision genetic treatment of rare diseases using a large-scale, multi-disciplinary approach. This means that this large grant will facilitate the collaboration of researchers from many different scientific fields, all focused on tackling rare disease treatment and cures. Among many scientific tools and techniques to be used as a part of this precision genetics grant, the latest gene-editing technology will be used to create and characterize rare disease specific mouse-models for the scientific community.

We’d like to take a moment to thank JAX for being a relentless advocate and partner of KIF1A.ORG since the beginning. The collaborations and expedited progress generated from this grant will be transformative to our community and the rare disease community at large–we cannot wait to see how this evolves as we walk beside you.

“So much of the burden of pushing for cures for rare diseases has been on the shoulders of parents,” says Cat Lutz, Ph.D., director of the JAX Rare and Orphan Disease Center. “It’s unfortunate and it’s about time that changed. And we’re happy to be part of that change.”

Artificial intelligence, drug repurposing and peer review

Like many regulatory processes, the peer review process for scientific journal articles is often being fast tracked in the age of COVID-19. Fast tracking regulatory processes has its pros and cons: on one hand, it expedites the spread of information which is much needed to act swiftly during this pandemic. However, one must also recognize that regulatory steps were first initiated for a reason. If modulations to this regulatory pathway must occur, how are we assessing the quality of content review to avoid the spread of inaccurate or misleading information? This article, first authored by chairman and CEO of Ovid Therapeutics Jeremy Levin, reviews moments in history in which the spread of medical and scientific misinformation has led to deleterious consequences in broader humanity. Furthermore, the authors go on to propose a new strategy of peer review, supplemented by artificial intelligence or machine learning, to rigorously process the dramatic increase of new biomedical information in the era of COVID-19. Sit back, relax, and enjoy this article by clicking the button below. If you are interested in learning more about the peer review process, check out the video below as well!


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    […] You can read about the McKenney Lab’s recent work in our September 26, 2020, edition of Science Saturday or our Research Simplified summary of their extensive KIF1A research published in […]

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