#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

‘Kinesinopathies’: emerging role of the kinesin family
member genes in birth defects

This paper takes a deep dive into a relatively new term for our vocabulary: “kinesinopathies”. Kinesinopathies are defined as a group of conditions that “are phenotypically and genetically overlapping and characterized by the functional impairment of a [kinesin motor].” In other words, we can think of kinesinopathies as diseases or disorders that relate to kinesin dysfunction. Kinesin motor impairment has been linked to a number of different conditions; this paper focuses on the connection between kinesin dysfunction and different types of birth defects. KIF1A is mentioned throughout this article, specifically reviewing how KIF1A dysfunction can lead to certain types of structural and neurological changes that are categorized as birth defects, such as clubfoot, microcephaly, and cerebellar atrophy. This article provides a comprehensive overview of how different kinesins are related to certain birth defects, highlighting the important role of kinesin proteins in our bodies.

Rare Disease News

Gut microbiome influences ALS outcomes

Did you know that what happens in our stomachs is directly linked to what happens in our brains? This is called the gut-brain-axis (GBA) which involves a complex communication system between our central nervous system and our enteric (or gastrointestinal) nervous system. The link between the GBA and neurodegenerative disease often focuses on the gut microbiome, or all of the microbes (bacteria, viruses, fungi, etc.) that happily reside in our GI tract. This articles summarizes a recent study revealing that changes in the gut microbiome could influence the severity of disease in an ALS mouse model.

“Our study focused on the most commonly mutated gene in patients with ALS. We made the remarkable discovery that the same mouse model — with identical genetics — had substantially different health outcomes at our different lab facilities… we traced the different outcomes to distinct gut microbial communities in these mice, and now have an intriguing hypothesis for why some individuals carrying this mutation develop ALS while others do not.”

Dr. Kevin Eggan, Harvard Stem Cell Institute

Gene-editing pipeline takes off

Since 2005, gene editing technologies, like CRISPR-Cas-base editors, have been increasing in frequency in clinical settings. This article focuses specifically on the rise of CRISPR-Cas gene editing over the past 15 years, highlighting the promise and potential of this technology. Specific examples of CRISPR-Cas technology in the clinic are discussed, such as applications for editing different cells in our immune systems. Encouragingly, this article also discusses the role of CRISPR-Cas technology in rare disease therapeutics. If you are having trouble accessing this article and would like to read more, please contact Dr. Dominique Lessard.

“There’s no question that eventually you do run into that long tail of diseases with very small populations, which might ultimately require a different regulatory regime. I think that’s something [Beam Therapeutics will] be active in.”

John Evans, CEO of Beam Therapeutics

Antisense Therapeutics Reports Phase II Results Showing ATL102 Meets Primary Endpoint and Secondary Endpoints in Treating DMD

An antisense oligonucleotide (ASO) therapeutic known as ATL102 has shown promising results in a phase 2 clinical trial at the Royal Children’s Hospital (RCH) in Melbourne, Australia. This trial is focused on using ATL102 to treat Duchenne muscular dystrophy (DMD), “a genetic disorder characterized by progressive muscle degeneration and weakness due to the alterations of a protein called dystrophin that helps keep muscle cells intact” as stated by the Muscular Dystrophy Association. This ASO is designed to target specific cells in our immune system, however, the results from this study have positive implications for the global use of ASOs as a therapeutic. While there are not many ASOs on the market yet, there are many in various stages of clinical trial development. Seeing ASOs progress through more and more complex stages of the clinical trial process is encouraging as we look towards potential ASO therapeutics for the KAND community through the KIF1A program at Ionis.

Anavex Life Sciences Announces Initiation of First-in-Human Phase 1 Study of ANAVEX®3-71 (AF710B)

Annavex Life Science, a clinical-stage biotech company, just announced approval by the Australian Human Research Ethics Committee for a phase 1 study of the small molecule ANAVEX®3-71 (AF710B). AF710B is similar to another small molecule from Annavex Life Science designed for the treatment of frontotemporal dementia.

“We are excited to expand the Anavex clinical portfolio by entering the clinic with ANAVEX®3-71. Considerable efforts over the last few years to progress this program through IND-enabling GLP animal toxicology, manufacturing and drug formulation development have resulted in an orally available drug candidate with potential disease-modifying properties for vulnerable aged patients with serious morbidity and mortality associated with neurodegeneration.”

Dr. Christopher U Missling, President and Chief Executive Officer of Anavex

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