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Researchers at the Hubrecht Institute have laid the foundation for the development of a gene therapy for the genetic heart disease arrhythmogenic cardiomyopathy (ACM). Their approach, based on replacement of the PKP2 gene, led to significant structural and functional improvements in laboratory models of the disease.

The study by the group of Eva van Rooij was published on 7 December 2023 in Nature Cardiovascular Research. Multiple clinical trials will start in 2024 in the United States to explore the clinical potential of this approach in ACM patients with PKP2 mutations.

ACM is a genetic heart disease that affects 1 in 2,000 to 1 in 5,000 people worldwide. It is characterized by arrhythmias and can lead to sudden cardiac arrest. Current treatment of the disease usually consists of antiarrhythmic drugs and implantable cardioverter-defibrillators (ICDs), which are focused solely on treating the symptoms rather than targeting the root of the problem.

An international team led by researchers at the University of Toronto has uncovered over 100 genes that are common to primate brains but have undergone evolutionary divergence only in humans—and which could be a source of our unique cognitive ability.

The researchers, led by Associate Professor Jesse Gillis from the Donnelly Center for Cellular and Biomolecular Research and the department of physiology at U of T’s Temerty Faculty of Medicine, found the genes are expressed differently in the brains of humans compared to four of our relatives—chimpanzees, gorillas, macaques and marmosets.

The findings, published in Nature Ecology & Evolution, suggest that reduced selective pressure, or tolerance to loss-of-function mutations, may have allowed the genes to take on higher-level cognitive capacity. The study is part of the Human Cell Atlas, a global initiative to map all human cells to better understand health and disease.

In 2006, Paul Rothemund transformed the field of DNA nanotechnology when he unveiled an innovative approach for making shapes and patterns from genetic material.

On the internet, nothing is safe — not even your DNA, apparently.

That’s the dystopian lesson from the commercial genetic testing company 23andMe, which disclosed on Friday in a regulatory filing that hackers managed to access information on about 14,000 users or 0.1 percent of its customer user base.

But the problem goes beyond this relatively small number of people. Because the website allows users to share DNA information with other users in order to find relatives, the true number impacted is orders of magnitude larger — with about 6.9 million customers having their personal information compromised, according to TechCrunch. Big yikes on that figure, because it affects something like half of the 14 million users at 23andMe.

Scientists have created tiny, self-assembling robots made from human cells that could one day repair damaged skin and tissue.

These tiny biological machines, called Anthrobots, are made from human tracheal cells without any genetic modification. Lab dish experiments revealed they can encourage neurons, or nerve cells, to grow in damaged tissue.

https://www.youtube.com/watch?v=1-fNggTpGWQ

So if I heard this right, after 8 minutes or so, the effects are temporary and he indicates people would have to take this every couple of years.

Here Akshay talks about his interest in aging, how he met with Dr Katcher and formed Yuvan Research and their experiments with E5 and the results that they saw.
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CRISPR—Clustered Regularly Interspaced Short Palindromic Repeats—is the microbial world’s answer to adaptive immunity. Bacteria don’t generate antibodies when they are invaded by a pathogen and then hold those antibodies in abeyance in case they encounter that same pathogen again, the way we do. Instead, they incorporate some of the pathogen’s DNA into their own genome and link it to an enzyme that can use it to recognize that pathogenic DNA sequence and cut it to pieces if the pathogen ever turns up again.

The enzyme that does the cutting is called Cas, for CRISPR associated. Although the CRISPR-Cas system evolved as a bacterial defense mechanism, it has been harnessed and adapted by researchers as a powerful tool for genetic manipulation in laboratory studies. It also has demonstrated agricultural uses, and the first CRISPR-based therapy was just approved in the UK to treat sickle-cell disease and transfusion-dependent beta-thalassemia.

Now, researchers have developed a new way to search genomes for CRISPR-Cas-like systems. And they’ve found that we may have a lot of additional tools to work with.

The world’s largest collection of full human genomes has just gone live.

The whole genomes of 500,000 people in the UK Biobank will help researchers to probe our genetic code for links to disease.

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