Lifeboat Foundation

The human genome, a complex mosaic of genetic data essential for life, has proven to be a treasure trove of strange features. Among them are segments of DNA that can “jump around” and move within the genome, known as “transposable elements” (TEs).

As they change their position within the genome, TEs can potentially cause mutations and alter the cell’s genetic profile but also are master orchestrators of our genome’s organization and expression. For example, TEs contribute to regulatory elements, transcription factor binding sites, and the creation of chimeric transcripts – genetic sequences created when segments from two different genes or parts of the genome join together to form a new, hybrid RNA molecule.

Matching their functional importance, TEs have been recognized to account for half of the human DNA. However, as they move and age, TEs pick up changes that mask their original form. Over time, TEs “degenerate” and become less recognizable, making it difficult for scientists to identify and track them in our genetic blueprint.

The recent approval of a CRISPR-Cas9 therapy for sickle cell disease demonstrates that gene editing tools can do a superb job of knocking out genes to cure hereditary disease. But it’s still not possible to insert whole genes into the human genome to substitute for defective or deleterious genes.

A new technique that employs a retrotransposon from birds to insert genes into the genome holds more promise for gene therapy, since it inserts genes into a “safe harbor” in the human genome where the insertion won’t disrupt essential genes or lead to cancer.

Retrotransposons, or retroelements, are pieces of DNA that, when transcribed to RNA, code for enzymes that copy RNA back into DNA in the genome—a self-serving cycle that clutters the genome with retrotransposon DNA. About 40% of the human genome is made up of this “selfish” new DNA, though most of the genes are disabled, so-called junk DNA.

Although people of European descent account for less than one-quarter of the world’s population, their DNA disproportionately drives genetics research. Between 2005 and 2018, the majority of genome-wide association studies were conducted with data from people living in just three countries — the United Kingdom, the United States, and Iceland.

“The paradox of precision medicine is that you have to have a ton of different kinds of people to figure out one person really well,” said Josh Denny, CEO of the All of Us research program. “There’s still so much we don’t understand about the human genome, especially about rare variation. Huge projects like ours are really helping to accelerate that understanding.”

All of Us has recruited more than 750,000 volunteers to provide survey responses about their health, medical records, and if they’re willing, biological samples for molecular and genetic testing. Genetic data from some participants have been available for researchers since 2020, but the new release this week includes the whole genome sequences of nearly 250,000 participants — half of whom are of non-European ancestry.

Canadian researchers led by Montreal radiologist Gilles Soulez have developed a novel approach to treat liver tumors using magnet-guided microrobots in an MRI device.

The idea of injecting microscopic robots into the bloodstream to heal the human body is not new. It’s also not science fiction. Guided by an external magnetic field, miniature biocompatible robots, made of magnetizable iron oxide nanoparticles, can theoretically provide medical treatment in a very targeted manner.

Until now, there has been a technical obstacle: the force of gravity of these microrobots exceeds that of the magnetic force, which limits their guidance when the tumor is located higher than the injection site. While the magnetic field of the MRI is high, the magnetic gradients used for navigation and to generate MRI images are weaker.

Scientists are investigating whether an oral drug sprinkled with gold nanoparticles could one day treat neurodegenerative diseases like Parkinson’s and multiple sclerosis.

The experimental medicine, called CNM-Au8, has now shown success in boosting the brain’s metabolism in phase II clinical trials.

Research on the safety and efficacy of the daily drug is still ongoing, but the initial results have researchers hopeful. The medicine contains suspended nanoparticles of gold that can apparently pass the blood-brain barrier and improve energy supply to neurons, preventing their decline.

Elon Musk shared an update on Neuralink’s first human patient and their experience with the N1 chip.

The first human Neuralink patient seems to have made a full recovery with no ill effects and is able to control the mouse around the screen just by thinking, said Elon Musk during an apparent on X Spaces.

Musk added that Neuralink continuously observes the patient’s ability to use the N1 brain implant. The patient is currently tasked to click on the mouse button as often as possible.

Neurodegenerative diseases are among the most complex human ailments, and their exact causes and mechanisms are the subject of ongoing research and debate. When it comes to Huntington’s disease, steadily accumulating evidence over the past 30 years has led to a model of molecular events that explains several key features of the disease, including why it has an earlier onset in some people and why it causes symptoms such as involuntary movements and mood swings.

But two new complementary papers from The Rockefeller University suggest that this may not be the whole story.

Huntington’s is caused by somatic CAG expansions in which a triplet repeat of DNA bases in a mutated Huntingtin (mHTT) gene increase in number throughout life, leading to cell death. As described in Nature Genetics and in Neuron, the Rockefeller scientists used a custom technique to reveal that these genetic repeats are unstable, and likely producing more toxic proteins, only in select brain cell types. Moreover, some cells they studied proved surprisingly resilient to CAG repeat expansion.

Feb 20 (Reuters) — The first human patient implanted with a brain-chip from Neuralink appears to have fully recovered and is able to control a computer mouse using their thoughts, the startup’s founder Elon Musk said late on Monday.

“Progress is good, and the patient seems to have made a full recovery, with no ill effects that we are aware of. Patient is able to move a mouse around the screen by just thinking,” Musk said in a Spaces event on social media platform X.

Musk said Neuralink was now trying to get as many mouse button clicks as possible from the patient.

Ever wonder what it’s like to live on Mars? Now, you could try out life on the Red Planet – in a simulation run by NASA. The space agency is looking for participants to live on a fake Mars for a full year to help them prepare for human exploration of the planet.

This is the second of three missions, which will have four volunteers living in a 1,700-square-foot Mars simulation, NASA has announced. The missions, called CHAPEA, for Crew Health and Performance Exploration Analog, take place in a 3D-printed Mars habitat at NASA’s Johnson Space Center in Houston, Texas.

The simulation, called the Mars Dune Alpha, simulates a future Mars habitat with separate areas for living and working. It includes four living quarters for each volunteer, a workspace, a medical station, lounge areas and a galley and food growing stations.