#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.

KIF1A.ORG on (Virtual) Capital Hill!

On Thursday September 17th, 2020 the annual Rally for Medical Research was held virtually for the first time ever! During this event representatives from organizations and institutions from all over the United States had the chance to meet with members of Congress to discuss the importance of continual National Institutes of Health funding for biomedical research. KIF1A.ORG’s Science Communication Director, Dr. Dominique Lessard, was “on capital hill” all day Thursday talking to senate and house members about the importance of research funding for the rare disease community. During these meetings, she had a number of impactful conversations centered around amplifying the voices and concerns of those in the KAND and greater rare disease community.

Research Simplifed Interview with Dr. Jayne Aiken

Also this week, Dr. Dom sat down (again, virtually) with Dr. Jayne Aiken to discuss Dr. Aiken’s recent Research Simplified summary of her presentation on the history of KIF1A research. We updated the Research Simplifed blog post, but you can also watch the video below. In this interview, Dr. Aiken also talks about how she got into kinesin research, and how the KAND family community has made an impact on her.

“It’s really amazing for me as a scientist to have a link to the people that I could potentially be having an effect on. Seeing the community, seeing patients that have KAND and how it effects their lives, their family’s life, and just how supportive and amazing this connection is between these families and these researchers.”

Dr. Jayne Aiken

Recent KIF1A-Related Research

Phenotypic Expansion in KIF1A-related Dominant Disorders: A Description of Novel Variants and Review of Published Cases 

Today we are sharing yet another recent KIF1A variant focused publication! This study has a bit of a different spin on how we typically talk about the clinical manifestations of KIF1A variants. Specifically, this study proposes that clinical KIF1A dysfunction could be categorized as a “single neuromuscular disorder with variable involvement of other organ systems.” What does this mean? This statement suggests that neuromuscular symptoms, like ataxia or hypertonia, are the unifying feature of individuals with KIF1A variants and that other symptoms outside of the neuromuscular system occur on an individual by individual basis.

When discussing KIF1A variants, we often talk about missense variants. This is where one amino acid building block is incorrectly replaced with another amino acid building block during the construction of the KIF1A protein. In this paper there are two other genetic events discussed that may be new concepts to our community: deletion and mosaicism. A deletion, aptly named, is when certain parts of the DNA code are removed during the construction of the KIF1A protein. The magnitude of a deletion can vary from just one amino acid building block to large chunks of the KIF1A protein being removed. Mosaicism has to do with genetic variation in the types of cells we have in our body. You can learn more about mosaicism and its role in diseases like cancer by watching the video below.

According to our tally, this makes five KIF1A variant/KAND-specific publications the past two months alone, which is a remarkable increase in publication progress. With each publication, we learn of new ideas and information about KIF1A variants, helping to shape our current understanding of KAND. This dynamic process of information gathering and assessment is quite literally science in action and essential in our mission to cure KAND!

Rare Disease News

Psychosocial impact on siblings of patients with developmental and epileptic encephalopathies

Developmental and epileptic encephalopathies (DEEs) are a group of rare epilepsy syndromes that commonly present with severe and frequent seizures, developmental delay, and motor deficiencies. While the effects of DEEs have a great impact on patients, they also have a significant psychosocial impact on a patient’s family members, particularly their siblings. By compiling data through the Sibling Voices Survey, this article comprehensively details the perspectives of siblings of people with DEE. The surveyed cohort was broken down into three age groups ranging from 9 years old to adult siblings. Each cohort was asked questions about the most difficult aspects of living with siblings with DEEs, the burden of responsibility, coping mechanisms and the mental and emotional state of siblings. Click the button below to read the full article, authored in part by some amazing rare disease community members and advocates!

We recognize that siblings of KAND individuals experience many of the psychosocial impacts described in this article and may be looking for support from KAND-specific resources. That why we’ve created our first KIF1A.ORG sibling resource: A Note to Siblings. Intentionally written at the middle-school level, this resource was created for siblings of KAND individuals and covers topics such as KAND basics, coping strategies, and additional resources outside of KIF1A.ORG. We’d like to acknowledge that the majority of this resource was created by our KIF1A.ORG Summer Intern Lindsey Christinger and we thank her for this contribution to our community!

Gene Therapy Company Develops Streamlined Manufacturing Model

Many of our Science Saturday posts discuss the challenges and difficulty researchers experience when identifying and creating therapeutic agents. But what happens after a therapeutic agent is finally discovered? There are many regulatory steps that a therapeutic agent must go through such as safety profiling, efficacy testing, and various level of clinical trials. Additionally, just like any product that is expected to be produced on a mass scale, therapeutic agents must also go through a manufacturing process. This article discusses the gene therapy development company AskBio’s approach to recombinant adeno-associated virus (AAV) manufacturing. Large-scale manufacturing of AAVs is challenging on many levels, making this process a risky event in the end-stages of AAV development. To combat this potential issue, AskBio is flipping the common workflow of AAV production upside-down by “reverse engineering the company’s manufacturing process.” This is the kind of out of the box thinking that moves many scientific fields closer and closer to therapeutic discovery. Click the button to read more!

“’We’ve built a highly-functional model to get our team to innovate,’ explains Jacob Smith, senior director of process development at AskBio. ‘The aim is to encourage a fail-early mindset to reduce manufacturing process changes and risk in our therapeutic programs.’”

New smart drug delivery system may help treatment for neurological disorders

What is inflammation? Despite what you may hear in the media about the negative side of this biological process (particularly inflammatory foods, which is a hot topic right now), inflammation plays a very important role in keeping our bodies healthy. Inflammation is the process by which your body fights against things that harm it such as bacteria and viruses. In an ideal situation our bodies have a great balance between initiating enough of an inflammatory response to keep out harmful agents but not being over-inflamed to the point in which is it counterproductive and detrimental. This balance is often tipped in neurodegenerative disorders, often presenting as “over-inflamed” and damaged tissues. To combat this, a team at Rutgers has created a nano-scale drug delivery system to reduce inflammation and “create a favorable micro-environment to promote tissue repair and recovery after neurological injury.” Read the article to learn more about this new system and check out the video below on the basics of inflammation!

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