#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.

Recent KIF1A-Related Research

Physical parameters characterizing dysfunction of neuronal cargo transport caused by the dynein inhibitor ciliobrevin

In this preprint we learn how researchers from Tohoku University in Japan investigated “synaptic cargo transport by the motor proteins kinesin and dynein in the axons of hippocampal neurons.”

Warning: this paper is full of complex calculations and statistics, which the researchers used to “estimate the physical parameters associated with intracellular transport.” The researchers suggest these measures could “help quantify the damage to axonal transport resulting from neuronal diseases including Alzheimer’s, Parkinson’s, and Huntington’s diseases in [the] future.”

Bonus: What’s a Preprint?

From bioRxiv:

“Before formal publication in a scholarly journal, scientific and medical articles are traditionally ‘peer reviewed.’ In this process, the journal’s editors take advice from various experts—called ‘referees’ … Because this process can be lengthy, authors use the bioRxiv service to make their manuscripts available as ‘preprints’ before completing peer review and consequent certification by a journal. This allows other scientists to see, discuss, and comment on the findings immediately.”

While preprints are not final, peer-reviewed publications, they do enable the scientific community and stakeholders like us to have more immediate, open access to the latest advancements in scientific discovery.

Rare Disease News

Super-precise CRISPR tool enhanced by enzyme engineering

The research team behind prime editing developed yet another improvement to conventional CRISPR techniques that could lead to safer gene therapies:

“Researchers have boosted the accuracy of a technique based on the popular but error-prone CRISPR–Cas9 system by engineering enzymes that can precisely target DNA without introducing as many unwanted mutations. The enzymes, reported on 10 February in Nature Biotechnology, could make a method called base editing, which allows researchers to convert one DNA letter into another, more feasible as a tool to treat genetic diseases. …

Because many heritable human diseases — sickle-cell anaemia, for example — can be caused by single-letter changes to DNA, base editing is an attractive approach for treating these disorders.”

Cutting-edge CRISPR gene editing appears safe in three cancer patients

Scientists conducted a small clinical trial to evaluate the safety and feasibility of a novel approach: combining CRISPR and T cell therapy to treat cancer patients.

“Using CRISPR to knock out selected genes while also adding DNA, it was hoped, might make T cells even more powerful and persistent. But CRISPR brought its own uncertainties. Lab studies have revealed ‘off-target’ effects, in which unintended DNA gets modified. No one knew whether T cells with sliced and diced genes could even survive in the human body.”

While further experimentation is needed, scientists are calling the trial a success after finding few off-target changes and longer-lasting healthy T cells compared to prior methods.

Viltolarsen (NS-065/NCNP-01)

A New Drug Application (NDA) for an antisense oligonucleotide drug developed for a subgroup of Duchenne muscular dystrophy patients has been accepted by the FDA. Clinical trials to assess the safety and tolerability of Viltolarsen have shown no serious side effects and improvements based on outcome measures and endpoints. Clinical trials are ongoing, and the FDA should announce its decision whether to approve the drug by the end of 2020.

Anavex Life Sciences Announces Fast Track Designation Granted by U.S. FDA for ANAVEX®2-73 (blarcamesine) Clinical Development Program for the Treatment of Rett Syndrome

A small molecule therapeutic developed for patients with Rett syndrome has been granted Fast Track designation from the FDA.

“‘With no currently approved agents to treat Rett syndrome, patients and their physicians have an urgent need for new therapeutic options,’ said Christopher U. Missling, PhD, President and Chief Executive Officer of Anavex. ‘We view this FDA Fast Track designation as continued support that ANAVEX®2-73 (blarcamesine) has the potential to address this unmet need. Importantly, Fast Track designation provides a number of important advantages that could expedite the development and review of ANAVEX®2-73 (blarcamesine).'”

Included in the announcement is a helpful explanation of Fast Track designation and the benefits of the program.

Brain Structural Plasticity: From Adult Neurogenesis to Immature Neurons

This mini review article is not only an interesting summary of what scientists have (and haven’t) learned about brain plasticity, it also illustrates how messy the path to scientific discovery can be and the importance of scientifically sound study design, protocols and methodology.

“… after more than 10,000 papers published on AN, we still do not know its time course, rate or features with respect to other kinds of structural plasticity in our brain. The solution does not appear to be behind the next curve, as differences among mammals reveal a very complex landscape that cannot be easily understood from rodents models alone. By considering evolutionary aspects, some pitfalls in the interpretation of cell markers, and a novel population of undifferentiated cells that are not newly generated [immature neurons (INs)], we address some conflicting results and controversies in order to find the right road forward. We suggest that considering plasticity in a comparative framework might help assemble the evolutionary, anatomical and functional pieces of a very complex biological process with extraordinary translational potential.”

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