Lifeboat Foundation

As this is the first report of neuro-inflammation in Kleefstra syndrome, the next step is to find out if it also occurs in the human condition. Shinkai believes the chances are high and says he would not be surprised if other neurological diseases caused by epigenetic dysregulation were also related to abnormal inflammation in the brain.

Researchers at the RIKEN Cluster for Pioneering Research (CPR) in Japan report that Kleefstra syndrome, a genetic disorder that leads to intellectual disability, can be reversed after birth in a mouse model of the disease. Published in the scientific journal iScience, the series of experiments led by Yoichi Shinkai showed that postnatal treatment resulted in improved symptoms, both in the brain and in behavior.

Normally, we get two good copies of most genes, one from each parent. In Kleefstra syndrome, one copy of the EHMT1 gene is mutated or missing. This leads to half the normal amount of GLP, a protein whose job is to control genes related to brain development through a process called H3K9 methylation. Without enough GLP, H3K9 methylation is also reduced, and the connections between neurons in the brain do not develop normally. The result is intellectual disability and autistic-like symptoms. “We still don’t know if Kleefstra syndrome is a curable disease after birth or how this epigenetic dysregulation leads to the neurological disorder,” says Shinkai. “Our studies in mice have provided new information about what causes the behavioral abnormalities associated with the syndrome and have shown that a cure is a real possibility in the future.”

Continue reading “A genetic brain disease reversed after birth” »

CRISPR technology offers the promise to cure any human genetic disease with gene editing; which one will be the first?

CRISPR-Cas9 was first used as a gene-editing tool in 2012. In just a few years, the technology has exploded in popularity thanks to its promise of making gene editing much faster, cheaper, and easier than ever before.

CRISPR is short for ‘clustered regularly interspaced short palindromic repeats.’ The term makes reference to a series of repetitive patterns found in the DNA of bacteria that form the basis of a primitive immune system, defending them from viral invaders by cutting their DNA.

He explored the possibility of using gene therapy or gene editing—technologies that were dominating headlines for their ability to tackle other rare genetic disorders. But scientists told him those approaches would be difficult to implement for Dravet. Instead, a newfangled idea called transfer RNA (tRNA) therapy seemed like it might be the answer.

Drug Discovery tRNA therapies could help restore proteins lost in translation.

A new class of therapies based on transfer RNA could treat forms of cystic fibrosis, muscular dystrophy, genetic epilepsies, and more by.

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Thanks to CRISPR, gene therapy and “designer babies” are now a reality. The gene editing Swiss army knife is one of the most impactful biomedical discoveries of the last decade. Now a new study suggests we’ve just begun dipping our toes into the CRISPR pond.

CRISPR-Cas9 comes from lowly origins. It was first discovered as a natural mechanism in bacteria and yeast cells to help fight off invading viruses. This led Dr. Feng Zhang, one of the pioneers of the technology, to ask: where did this system evolve from? Are there any other branches of the CRISPR family tree that we can also harness for gene editing?

In a new paper published last week in Science, Zhang’s team traced the origins of CRISPR to unveil a vast universe of potential gene editing tools. As “cousins” of CRISPR, these new proteins can readily snip targeted genes inside Petri dishes, similar to their famous relative.

Circa 2012.

A bioengineer and geneticist at Harvard’s Wyss Institute have successfully stored 5.5 petabits of data — around 700 terabytes — in a single gram of DNA, smashing the previous DNA data density record by a thousand times.

The work, carried out by George Church and Sri Kosuri, basically treats DNA as just another digital storage device. Instead of binary data being encoded as magnetic regions on a hard drive platter, strands of DNA that store 96 bits are synthesized, with each of the bases (TGAC) representing a binary value (T and G = 1 A and C = 0).

Continue reading “Harvard cracks DNA storage, crams 700 terabytes of data into a single gram” »

A CRISPR-Cas9 gene editing technology that has shown promise in clearing HIV from mice is headed into human testing.

Excision BioTherapeutics will usher the CRISPR-based therapy EBT-101 into clinical trials after the FDA cleared an investigational new drug application, according to the company’s press release.

EBT-101 is under development as a potential virus-clearing treatment for patients with HIV—or, put in the company’s words, “a potential functional cure for chronic HIV.”

Progress.

Replacing or editing disease-causing mutations holds great promise for treating many human diseases. Yet, delivering therapeutic genetic modifiers to specific cells in vivo has been challenging, particularly in large, anatomically distributed tissues such as skeletal muscle. Here, we establish an in vivo strategy to evolve and stringently select capsid variants of adeno-associated viruses (AAVs) that enable potent delivery to desired tissues. Using this method, we identify a class of RGD motif-containing capsids that transduces muscle with superior efficiency and selectivity after intravenous injection in mice and non-human primates. We demonstrate substantially enhanced potency and therapeutic efficacy of these engineered vectors compared to naturally occurring AAV capsids in two mouse models of genetic muscle disease. The top capsid variants from our selection approach show conserved potency for delivery across a variety of inbred mouse strains, and in cynomolgus macaques and human primary myotubes, with transduction dependent on target cell expressed integrin heterodimers.

Watch the full documentary on Vimeo on demand: https://vimeo.com/ondemand/339083

The study of consciousness needs to be lifted out of the mysticism that has dominated it. Consciousness is not just a matter of philosophy or spirituality. It’s a matter of hard science. It’s a matter of understanding the brain and the mind — a pattern structure made out of information. It’s also a matter of engineering. If we can understand the functionality of the brain, its neural code, then we can build the same functionality into our computer systems. There’s no consensus on what produces consciousness, but everyone regardless of metaphysical views can agree what it is like to be conscious. Given that consciousness is subjectivity, what consciousness is like is what consciousness is.

Continue reading “Consciousness: Evolution of the Mind, Documentary (2021), Official Teaser Trailer” »

A new electric solar car project with a living extension and expandable solar panels is giving us a glimpse into what the future might hold for RV/van life.

Solar Team Eindhoven, a group of engineering students from the Technical University of Eindhoven (Netherlands), is probably the most famous team that has competed in the World Solar Challenge, a competition to create super-efficient solar cars.

The people behind Lightyear came up from that team, and now they are trying to use the knowledge acquired through the creation of the original Stella and Stella Lux solar cars to bring to market a road-legal solar car.