Lifeboat Foundation

In biology, symmetry is typically the rule rather than the exception. Our bodies have left and right halves, starfish radiate from a central point and even trees, though not largely symmetrical, still produce symmetrical flowers. In fact, asymmetry in biology seems quite rare by comparison.

Does this mean that evolution has a preference for symmetry? In a new study, an international group of researchers, led by Iain Johnston, a professor in the Department of Mathematics at the University of Bergen in Norway, says it does.

On top of the environmental concerns, Japan has an added motivation for this push towards automation —its aging population and concurrent low birth rates mean its workforce is rapidly shrinking, and the implications for the country’s economy aren’t good.

Thus it behooves the Japanese to automate as many job functions as they can (and the rest of the world likely won’t be far behind, though they won’t have quite the same impetus). According to the Nippon Foundation, more than half of Japanese ship crew members are over the age of 50.

In partnership with Misui OSK Lines Ltd., the foundation recently completed two tests of autonomous ships. The first was a 313-foot container ship called the Mikage, which sailed 161 nautical miles from Tsuruga Port, north of Kyoto, to Sakai Port near Osaka. Upon reaching its destination port the ship was even able to steer itself into its designated bay, with drones dropping its mooring line.

Circa 2017 😀

As the most common subtype of Leber congenital amaurosis (LCA), LCA10 is a severe retinal dystrophy caused by mutations in the CEP290 gene. The most frequent mutation found in patients with LCA10 is a deep intronic mutation in CEP290 that generates a cryptic splice donor site. The large size of the CEP290 gene prevents its use in adeno-associated virus (AAV)-mediated gene augmentation therapy. Here, we show that targeted genomic deletion using the clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9 system represents a promising therapeutic approach for the treatment of patients with LCA10 bearing the CEP290 splice mutation. We generated a cellular model of LCA10 by introducing the CEP290 splice mutation into 293FT cells and we showed that guide RNA pairs coupled with SpCas9 were highly efficient at removing the intronic splice mutation and restoring the expression of wild-type CEP290. In addition, we demonstrated that a dual AAV system could effectively delete an intronic fragment of the Cep290 gene in the mouse retina. To minimize the immune response to prolonged expression of SpCas9, we developed a self-limiting CRISPR/Cas9 system that minimizes the duration of SpCas9 expression. These results support further studies to determine the therapeutic potential of CRISPR/Cas9-based strategies for the treatment of patients with LCA10.

Keywords: CEP290; CRISPR/Cas9; LCA10.

Continue reading “CRISPR/Cas9-Mediated Genome Editing as a Therapeutic Approach for Leber Congenital Amaurosis 10” »