#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.

A New Year of Impact

KIF1A.ORG exists to accelerate discovery of treatments for this generation of people affected by KIF1A Associated Neurological Disorder (KAND). Check out our 2021 Year in Review for highlights of our scientific accomplishments over the last year, including 6 newly funded research and therapeutic development projects!

As we close our eyes and reflect on the remarkable impact we’ve made, we hear the steady ticking of the KIF1A clock. We’re working relentlessly to make 2022 the year of treatments.

KIF1A-Related Research

The 2022 version of the gene table of neuromuscular disorders (nuclear genome)

Every year, the scientific journal Neuromuscular Disorders publishes a resource regarding genes associated with neuromuscular disorders. What is a neuromuscular disorder? This term can be defined as a disorder or disease that affects the function of muscles due to problems with the nerves and muscles in your body. Like we have seen in past years, KIF1A is included on this list in the context of Hereditary sensory neuropathy, type IIC (HSN2C). However, you may be surprised to know that many other kinesin motors are included in this list as well. One kinesin motor on this list that we’ve discussed often is KIF5A, which is a gene that has been linked to certain forms of ALS. Another kinesin motor on the list, that is quite similar to KIF1A in many ways, is KIF1B, which has been linked to Charcot-Marie-Tooth disease, type 2A. From this resource we gather than many kinesin motor genes, including KIF1A, play a large role in neuromuscular disorders. Click the button below to dive into this resource or learn more about neuromuscular disorders by watching the video below!

Current Studies

Did you know our resident KIF1A expert and Chief Science Officer, Dr. Dominique Lessard, carefully reviews every single KIF1A-related published paper? Not only does Dr. Dom want to make sure our KIF1A.ORG team and Research Network is up-to-date with developments in KIF1A research, Dr. Dom also wants our family community to understand the scientific literature (even if you don’t have a PhD in Molecular Biophysics). That’s why Dr. Dom writes simplified summarizes of key KIF1A-related studies on our Current Studies page. Have a look at 18 of the most significant KIF1A papers published in 2021 and follow #ScienceSaturday in 2022 to keep up with scientific advancements in KIF1A/KAND research.

Rare Roundup

How to read a scientific paper

In our weekly #ScienceSaturday articles, we love highlighting and demystifying scientific jargon to help YOU, the reader, be as up-to-date as possible on all things related to KIF1A research! For those of you who enjoy or want to start tackling scientific primary literature papers, have you ever found yourself wondering… how do I even begin to read this?! Luckily, our friends at TESS Research Foundation (fellow CZI Rare As One network members) are here to help. This week, we are sharing their recent blog post that helps break down the “Anatomy of a Scientific Paper.” From how to decode a “DOI” to how to access Supplementary Materials, this blog post is a great resource to help us all become more confident when navigating scientific literature. Click the button below to dive in!

ONCE UPON A GENE – Episode 113 – A Rare Collection – Lullabies

Grandparents cope with rare life too. Listen to a collection of stories from rare grandparents, including an incredible KIF1A poppy, on this Once Upon A Gene podcast.

“Her little life is giving so much. She helps make everyone she touches a better, more compassionate person, without her being able to say a single word… Don’t misunderstand. I wish she could be cured today. But if it had to be, I am glad she is ours… I just regret that she has to pay the price for all the goodness she brings.”

Sloane’s Poppy on Once Upon a Gene

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