#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

It has been an impactful week in the world of KIF1A clinical reports! Below you will find two new papers that provide a clinical snapshot of a subset of KIF1A variants. That makes these two publications the 3rd and 4th new clinical KIF1A variant studies from the last month! All of us here at KIF1A.ORG are thrilled by what we are observing: the pace of KIF1A research is quickening at an increasingly fast rate and gaining more momentum by the day.

Researchers: are you interested in hopping on the train? Email our Science Communication Director, Dr. Dominique Lessard, at dvlessard@kif1a.org to learn more about how we can work together!

In discussing the research papers below, it is important to point out that pathogenic KIF1A variants have been described in a variety of diseases and disorders. At KIF1A.ORG, we use “KIF1A Associated Neurological Disorder” to describe our cohort of KIF1A superheros, as this is a broadened term that encompasses multiple clinical presentations related to pathogenic KIF1A variants. While the differences in terminology can be confusing, it is important to remember that we all have the same goal in the end: to learn as much as we can about the clinical implications and presentation of different KIF1A variants to inform future therapeutic success.

Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders

Our first featured study describes 19 individuals with heterozygous KIF1A mutations ranging in age from 3 to 65. Conducted in Italy, this is a multi-center study, meaning that it was conducted at more than one medical center or location. The authors of this study divided patients into two groups: patients with a hereditary spastic paraplegia phenotype and patients with an ataxic phenotype. Within each group, the authors characterized each subset of patients based on clinical presentation, genetic information, and using neuro-radiological images like MRIs. Of note, this study also reported 3 novel variants previously unrecorded in the literature.

KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families

This study out of Russia is specifically focused on the overlap between KIF1A mutations and spastic paraplegia type 30 (SPG30). Through utilizing new genetic sequencing techniques, this study aimed to detect and characterize the autosomal dominant form of SPG30 for the first time in a Russian population of patients. Nine patients are characterized in this study, which are a mix of familial and sporadically occurring mutations. Like the paper mentioned above, this study also classifies patients into two groups: pure and complicated SPG30. The subclassification of patient mutation types has been mentioned in many recent clinical KIF1A studies, highlighting an emerging trend in the clinical classification of KIF1A variant-related diseases and disorders.

KIF1A in the News

Ovid Therapeutics and Columbia University are Working on a Treatment for KIF1A Associated Neurological Disorder

Patient Worthy published a story on the Ovid Therapeutics and Columbia University partnership to develop treatment for KAND and other rare disorders.

“As there are no current treatments developed specifically for this group of disorders, a disease-modifying therapeutic would be a major breakthrough.”

Rare Disease News

Researchers discover stem cells in the optic nerve that enable preservation of vision

The term “stem cells” has been a therapeutic buzzword for many decades now. In past #ScienceSaturday posts we’ve covered handfuls of articles talking about the promise of stem cell therapy for a range of diseases. But what IS a stem cell? A stem cell has the unique ability to turn into multiple different types of cells in our bodies. Think of a stem cell like a block of clay. A block of clay has the potential to be molded into any shape, as long as we have the guidelines to do so. The same is true for stem cells, which can be turned into muscle cells, skin cells, nerve cells, etc.

This article is highlighting a recent discovery out of the University of Maryland School of Medicine where researchers have identified stems cells around the optic nerve for the first time! The optic nerve plays an essential role in conveying visual information to the brain. As a result of this, damage to the optic nerve can lead to visual impairment. The discovery of stem cells around the optic nerve increases our understanding of our eyes’ defense mechanisms to combat optic nerve damage and has researchers thinking about new therapeutic options for optic-nerve related visual loss. Want to learn more about stem cells? Check out this video below!

FDA Approves Oral Treatment for Spinal Muscular Atrophy

The rare disease world is celebrating great news for the spinal muscular atrophy (SMA) community: The U.S. FDA approved the first treatment for SMA that can be taken by mouth or feeding tube at home. In just a few years, the SMA community has gone from zero treatments, to now three therapeutic options for patients.

Researchers discover treatment option for rare genetic disorder

Identifying specific pathogenic gene mutations (or variants) is an important step in understanding one’s diagnoses of a genetic disease or disorder. Imagine if we could take this understanding one level deeper by not only identifying which gene is mutated, but also learning when in development this mutation occurred. This is exactly what researchers at the Icahn School of Medicine at Mount Sinai have achieved in a patient with a mutation in their JAK1 gene by using a combination of genetic, genomic, and molecular tools. By mapping the mutation across this patient’s body, researchers were able to pinpoint when this mutation occurred in the embryo stage of development and extrapolate how this mutation progressed through the patient’s body from childhood to young adulthood. This new technique not only helps researchers understand the function of a specific gene over a developmental timeline, but also presents a new level of investigation for specific types of genetic diseases or disorders.

“In addition, the genetic discoveries uncovered in this case open up new research avenues into the complexities of how genetic diseases manifest and present a model of the future of personalized medicine. By coupling advanced clinical care with next-generation sequencing and detailed laboratory studies, we successfully diagnosed and treated a life-threatening disease.”

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