#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 email@example.com.
Recent KIF1A-Related Research
A Combinatorial MAP Code Dictates Polarized Microtubule Transport
“Here, we utilize in vitro reconstitution of purified motor proteins and non-enzymatic microtubule-associated proteins (MAPs) to demonstrate that MAPs exhibit distinct influences on the motility of the three main classes of transport motors: kinesin-1, kinesin-3, and cytoplasmic dynein. Further, we dissect how combinations of MAPs affect motors and unveil MAP9 as a positive modulator of kinesin-3 motility. From these data, we propose a general ‘MAP code’ that has the capacity to strongly bias directed movement along microtubules and helps elucidate the intricate intracellular sorting observed in highly polarized cells such as neurons.”
This research was led by McKenney Lab at University of California, Davis, a close collaborator with KIF1A.ORG. Look for an upcoming Research Simplified summary of this complex paper!
Rare Disease News
A Breakthrough in Genetic Medicine for Rare Diseases
Still trying to understand what antisense oligonucleotides (ASOs) are? Here’s a helpful article that provides a fairly basic introduction to ASOs and highlights some inspiring success stories.
“More than 100 [ASO] drugs are in the development pipeline for everything from Alzheimer’s disease to hypertension. Not all will reach the finish line, but, including Spinraza, eight have been approved so far in the U.S. and Europe, all for rare diseases. Drugs for Huntington’s and ALS are in the final stages of clinical trials. In a historic first, a doctor at Boston Children’s Hospital created a custom antisense drug for one little girl with an ultrarare disease in less than a year.”
Antisense Therapy Dramatically Increases Survival in Mouse Models of Childhood Epilepsy
A team led by Dr. Miriam Meisler (University of Michigan) developed a potential antisense oligonucleotide therapy to treat SCN8A and SCN1A genetic disorders without having to target specific mutations. This approach would enable a larger number of patients to benefit from the same therapeutic.
“I think in the next few years we are likely to see quite a few approvals for ASOs. They have found a useful niche in neurologic diseases, particularly for gene silencing of disease-causing alleles. I think it is a very exciting time for genetic medicine, ASOs included.”Dr. Beverly Davidson
In A 1st, Scientists Use Revolutionary Gene-Editing Tool To Edit Inside A Patient
Ready for some history-making CRISPR news?
“For the first time, scientists have used the gene-editing technique CRISPR to try to edit a gene while the DNA is still inside a person’s body. The groundbreaking procedure involved injecting the microscopic gene-editing tool into the eye of a patient blinded by a rare genetic disorder, in hopes of enabling the volunteer to see. …
‘We believe that the ability to edit inside the body is going to open entire new areas of medicine and lead to a whole new class of therapies for diseases that are not treatable any other way,’ Albright says.
Francis Collins, director of the National Institutes of Health, calls the advance ‘a significant moment.’”
Expanding the CRISPR Toolbox
“Scientists have only begun to understand and harness the potential of CRISPR-Cas systems …
‘Within 5 to 10 years,’ predicts Doudna, ‘scientists will be using [transposon-based CRISPR] systems along with Cas9, base editing, prime editing, and tools yet to be created, to introduce any change, at any genetic location, in any organism.’”