#ScienceSaturday posts share relevant and exciting scientific news with the KAND community, and are compiled by Alejandro Doval. Alejandro is from Spain and serves as Team Leader of the KIF1A.ORG parent-led Research Engagement Team. Send news suggestions to our team at impact@kif1a.org.
KIF1A-Related Research
Tracking Down the Fast and Superprocessive KIF1A with Gold Scattering Microscopy
Dr. Allison Gicking of The Hancock Lab at Pennsylvania State University is presenting KIF1A research at the American Physical Society March Meeting on March 5th. In the abstract, Hancock Lab researchers characterize KIF1A as “one of the fastest and most processive members of the kinesin superfamily.” But what makes KIF1A’s “high speeds and long run lengths” possible? That’s one question these researchers seek to address.
We’ll share more about this KIF1A research as we learn more.
Rare Disease News
Antisense Oligonucleotide Reduces Mutant Huntingtin Protein in Phase 1b/2a Trial
In a clinical trial for patients with Huntington disease, patients dosed with an antisense oligonucleotide therapy (ASO) had a reduction in the toxic huntintin protein with no serious adverse events reported. While the ASO lowers levels of the mutant huntintin protein, the healthy copy remains “relatively intact,” which is vital to neuronal function. Based on these results, the trial will add a group of patients receiving a higher dosage to evaluate the potential for higher efficacy.
Bonus: What exactly is antisense oligonucleotide therapy?
Antisense not making any sense? Let’s hear from a few companies that produce this type of therapy. A leader in ASO therapy, Ionis Pharmaceuticals, Inc., explains:
“Antisense therapies change the process of producing a protein before it even begins. To build a protein, a cell must make a copy of the DNA, which contains specific instructions for how to make that particular protein. This copy, called messenger RNA (mRNA), carries the instructions to the part of the cell where proteins are made. Antisense therapies are designed to seek out, bind to and destroy a mRNA in a highly specific manner, so that the amount of disease-causing protein is dramatically decreased.”
Want to learn more? In this short video, a few leaders from Biogen explain the impact ASOs have on therapeutic development.
Expect to hear more about ASOs from KIF1A.ORG, because this is one of our top therapeutic options for KIF1A Associated Neurological Disorder.
A NeuroD1 AAV-Based Gene Therapy for Functional Brain Repair after Ischemic Injury through In Vivo Astrocyte-to-Neuron Conversion
“Specifically, using NeuroD1 adeno-associated virus (AAV)-based gene therapy, we were able to regenerate one third of the total lost neurons caused by ischemic injury* and simultaneously protect another one third of injured neurons, leading to a significant neuronal recovery. … Behavioral analyses showed a significant improvement of both motor and cognitive functions after cell conversion.”
*Here we’re talking about injury to mouse brains that occurs when there is loss of blood flow to the brain, i.e., a stroke.
While this research focused on stroke-related brain injury, the findings are motivating for neurodegenerative disorders as well. Advancements like this can pave the way to therapeutics that don’t just halt disease progression, but enable neuroregeneration—regrowth and repair—as well.
Bonus: What exactly is AAV-based gene therapy?
This is another top therapeutic option for KAND. Here’s a helpful video from University of Florida Health to break it down:
The kill-switch for CRISPR that could make gene-editing safer
We’re pro-CRISPR, but what about anti-CRISPR tools that can make gene-editing more safe and effective? We like that too.
“These proteins serve as the rocks to CRISPR’s molecular scissors. … Some are using these proteins as switches to more finely control the activity of CRISPR systems in gene-editing applications for biotechnology or medicine.”
Scientists discover ‘molecular switch’ that can help repair damage to central nervous system
“One of the biggest challenges in the treatment of neurological disorders such as Alzheimer’s disease is irreversible neural damage. However, a study by researchers from Mayo clinic claims that a molecular switch with the ability to ‘turn on’ the substance that can help in healing this damage has been discovered.”
While this research shows promise to treat neurological disorders, scientists need to move this study from cell cultures to an animal model(s) before it can be considered for a human clinical trial.
Ci sono pazienti Kif1a che stanno sperimentando farmaci ASO ?