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Category: genetics – Page 5

Genome editing has advanced at a rapid pace with promising results for treating genetic conditions—but there is always room for improvement. A new paper by investigators from Mass General Brigham showcases the power of scalable protein engineering combined with machine learning to boost progress in the field of gene and cell therapy.

In their study, the authors developed a machine learning algorithm—known as PAMmla—that can predict the properties of approximately 64 million enzymes. The work could help reduce off-target effects and improve editing safety, enhance editing efficiency, and enable researchers to predict customized enzymes for new therapeutic targets. The results are published in Nature.

“Our study is a first step in dramatically expanding our repertoire of effective and safe CRISPR-Cas9 enzymes. In our manuscript, we demonstrate the utility of these PAMmla-predicted enzymes to precisely edit disease-causing sequences in primary and in mice,” said corresponding author Ben Kleinstiver, Ph.D., Kayden-Lambert MGH Research Scholar associate investigator at Massachusetts General Hospital (MGH).

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Genome editing has advanced at a rapid pace with promising results for treating genetic conditions-but there is always room for improvement. A new paper by investigators from Mass General Brigham published in Nature showcases the power of scalable protein engineering combined with machine learning to boost progress in the field of gene and cell therapy. In their study, authors developed a machine learning algorithm-known as PAMmla-that can predict the properties of about 64 million genome editing enzymes. The work could help reduce off-target effects and improve editing safety, enhance editing efficiency, and enable researchers to predict customized enzymes for new therapeutic targets. Their results are published in Nature.

“Our study is a first step in dramatically expanding our repertoire of effective and safe CRISPR-Cas9 enzymes. In our manuscript we demonstrate the utility of these PAMmla-predicted enzymes to precisely edit disease-causing sequences in primary human cells and in mice,” said corresponding author Ben Kleinstiver, PhD, Kayden-Lambert MGH Research Scholar associate investigator at Massachusetts General Hospital (MGH), a founding member of the Mass General Brigham healthcare system. “Building on these findings, we are excited to have these tools utilized by the community and also apply this framework to other properties and enzymes in the genome editing repertoire.”

CRISPR-Cas9 enzymes can be used to edit genes at locations throughout the genomes, but there are limitations to this technology. Traditional CRISPR-Cas9 enzymes can have off-target effects, cleaving or otherwise modifying DNA at unintended sites in the genome. The newly published study aims to improve this by using machine learning to better predict and tailor enzymes to hit their targets with greater specificity. The approach also offers a scalable solution-other attempts at engineering enzymes have had a lower throughput and typically yielded orders of magnitude fewer enzymes.

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A new comparison and analysis of the genomes of species in the genus Malus, which includes the domesticated apple and its wild relatives, revealed the evolutionary relationships among the species and how their genomes have evolved over the past nearly 60 million years.

The research team identified structural variations among the genomes and developed methods for identifying genes associated with desirable traits, like tastiness and resistance to disease and cold, that could help guide future breeding programs.

A paper describing the research, conducted by an international team that includes Penn State biologists, was published in the journal Nature Genetics.

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A research team has unveiled a crucial mechanism that helps regulate DNA damage repair, with important implications for improving cancer treatment outcomes.

The result was published in Cell Death & Differentiation. The team was led by Professor Zhao Guoping at the Hefei Institutes of Physical Science of the Chinese Academy of Sciences.

The efficacy of radiotherapy is largely limited by the DNA damage repair capacity of tumor cells. When ionizing radiation induces DNA double-strand breaks—the primary lethal damage—tumor cells often exhibit abnormal overexpression of DNA repair proteins, establishing a robust damage response system that drives clinical radioresistance. To address this challenge, the team deciphered the regulatory network of epigenetic modifications in DNA damage repair.

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Will a child who’s evaluated for autism later develop an intellectual disability? Can this be accurately predicted? Early-childhood experts in Quebec say they’ve have come up with a better way to find out.

In a study of 5,633 children drawn from three North American cohorts, clinician-researchers affiliated with Université de Montréal developed a new predictive model that combines a wide range of genetic variants with data on each stage of a young child’s development.

Their goal? To obtain reliable information as early as possible to predict the children’s developmental trajectory and thus offer more proactive support to those who may need it—namely, parents trying to better understand and anticipate their child’s needs.

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A new way to deliver disease-fighting proteins throughout the brain may improve the treatment of Alzheimer’s disease and other neurological disorders, according to University of California, Irvine scientists. By engineering human immune cells called microglia, the researchers have created living cellular “couriers” capable of responding to brain pathology and releasing therapeutic agents exactly where needed.

The study, published in Cell Stem Cell, demonstrates for the first time that derived from induced pluripotent stem cells can be genetically programmed to detect disease-specific brain changes—like in Alzheimer’s disease—and then release enzymes that help break down those toxic proteins. As a result, the cells were able to reduce inflammation, preserve neurons and synaptic connections, and reverse multiple other hallmarks of neurodegeneration in mice.

For patients and families grappling with Alzheimer’s and related diseases, the findings offer a hopeful glimpse at a future in which microglial-based cell therapies could precisely and safely counteract the ravages of neurodegeneration.

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Most cells in the human body each contain about six feet of DNA. Yet the nucleus, where DNA is coiled, is no larger than a single speck of dust. Despite its density, DNA is not a tangled ball of yarn. It is organized into intricate layers of loops that fold and unfold in response to cues from the cell.

Scientists know that the three-dimensional shape of DNA is important. This long helical thread is peppered with genes that are translated into proteins to drive cellular activity. And the structure of the —those layers of loops—determines which genes are active at any given time.

How the three-dimensional structure of the genome is maintained, however, is less clear. Structural changes and abnormalities are associated with many diseases, such as cancer and developmental disorders. Identifying what controls genome structure could yield targets for treatment.

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Living to 100 may sound like a dream, but thanks to advancements in anti-aging and longevity research, it’s becoming more of a realistic goal than ever before. While genetics play a role, experts say your daily habits have a major impact on how gracefully—and healthfully—you age. From diet and movement to mindset and skincare, there are key lifestyle shifts and science-backed secrets that can help slow the aging process, boost vitality, and support a longer, more vibrant life.

Robert Love, a neuroscientist, shared three anti-aging and longevity secrets you should know about if you want to “slow down aging” and “even help reverse aging.” According to him, prioritizing sleep, avoiding ultra-processed foods, and taking healthy supplements are some of the best options. Read on to learn more.

Prioritizing sleep is one of the most powerful (and underrated) anti-aging tools you have. During deep sleep, your body goes into repair mode—producing growth hormone, regenerating cells, and fixing damage caused by stress and environmental factors. This nightly “reset” helps keep your skin, organs, and even brain functioning optimally.

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Human brains make synaptic connections throughout much of childhood, and the brain’s plasticity enables humans to slowly wire them based upon experiences, contrary to how chimpanzees develop. Humans and chimpanzees share 98.8% of the same genes, but scientists have been looking for what drives the unique cognitive and social skills of humans.

A new study, which was published today in Genome Research, that examined brain samples from humans, chimpanzees, and macaques, collected from birth up to the end of their life span, has found some key differences between the expression of genes that control the development and function of synapses, which are the connections between neurons through which information flows.

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