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Category: genetics – Page 105

Investigational gene therapy gives children with rare immune disorder a new lease on life

An investigational gene therapy has successfully restored immune function in all nine children treated with the rare and life-threatening immune disorder called severe leukocyte adhesion deficiency-I, or LAD-I, in an international clinical trial co-led by UCLA.

LAD-I is a genetic condition that affects approximately one in a million people in the world. It is caused by mutations in the gene that produces CD18, a protein that enables to travel from the bloodstream to infection sites.

In the absence of this critical protein, individuals with severe LAD-I—most of whom are diagnosed within their first months of life—are left vulnerable to dangerous, recurrent bacterial and fungal infections. Survival beyond childhood is rare without treatment.

Using Bacteria as Living Test Tubes to Study Human Gene Mutations and Find New Drug Leads

Traditional biochemical methods of studying human gene mutations are often laborious and costly. Now bioengineers at the University of California San Diego have developed a new simple approach to rapidly check on human gene changes and also screen chemicals as potential drugs by turning everyday bacteria into living test tubes.

The researchers published their new study in the April 30 issue of Nature Biomedical Engineering.

Human cells carry thousands of genes, and tiny changes in these genes can cause serious diseases. Usually, scientists study these changes by testing proteins in a test tube or in human cells. But those methods can be slow, expensive and sometimes hard to do.

Can One Gram of Omega-3 Really Slow Aging? Here’s What Science Says

A new study involving over 700 older adults suggests that taking one gram of omega-3 daily may help slow biological aging, with effects visible in molecular markers known as epigenetic clocks.

When combined with vitamin D and regular exercise, the anti-aging benefits became even more pronounced, lowering the risks of frailty and cancer as well.

Omega-3 linked to slower aging in humans.

ODEP-Based Robotic System for Micromanipulation and In-Flow Analysis of Primary Cells

The presence of cellular defects of multifactorial nature can be hard to characterize accurately and early due to the complex interplay of genetic, environmental, and lifestyle factors. With this study, by bridging optically-induced dielectrophoresis (ODEP), microfluidics, live-cell imaging, and machine learning, we provide the ground for devising a robotic micromanipulation and analysis system for single-cell phenotyping. Cells under the influence of nonuniform electric fields generated via ODEP can be recorded and measured. The induced responses obtained under time-variant ODEP stimulation reflect the cells’ chemical, morphological, and structural characteristics in an automated, flexible, and label-free manner.

Computational analysis clarifies cancer risk for families with genetic variants

QIMR Berghofer-led research has shown that new advanced computational prediction tools can improve the accuracy of genetic testing for families affected by an inherited condition that significantly increases their risk of developing cancer, paving the way to better targeted care.

The findings have been published in the American Journal of Human Genetics alongside complementary studies by international collaborators, which together show how incorporating the new computational biology tools with existing modeling methods improved the predictive power of genetic test results.

Computational tools are used to predict if and how a genetic is likely to impact the function of the protein encoded by the gene.

First atomic map of potato pathogen reveals potential infection mechanism

Plants are susceptible to a wide range of pathogens. For the common potato plant, one such threat is Pectobacterium atrosepticum, a bacterium that causes stems to blacken, tissues to decay, and often leads to plant death, resulting in significant agricultural losses each year.

In 2012, researchers isolated a new virus that infects and kills this bacterium—a bacteriophage named φTE (phiTE). Now, for the first time, scientists have uncovered the atomic structure of φTE, revealing a possible mechanism of infection that may be more complex than previously thought.

The study, published earlier this month in Nature Communications, is the result of a multidisciplinary collaboration between researchers from the Okinawa Institute of Science and Technology (OIST) and the University of Otago. It brings together expertise across several fields, including virology, , , protein engineering, biochemistry, and biophysics.

Can Riboflavin Increase NAD, Decrease Homocysteine?

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Beyond the double helix: Alternative DNA conformations in ape genomes

Certain DNA sequences can form structures other than the canonical double helix. These alternative DNA conformations—referred to as non-B DNA—have been implicated as regulators of cellular processes and of genome evolution, but their DNA tends to be repetitive, which until recently made reliably reading and assembling their sequences difficult.

Now, a team of researchers, led by Penn State biologists, has comprehensively predicted the location of non-B DNA structures in great apes. It’s the first step in understanding the functions and evolution of such structures, known to contribute to genetic diseases and cancer, the team said.

The work depends on newly available telomere-to-telomere (T2T), or end-to-end, genomes of humans and other great apes that overcame sequencing and assembly difficulties associated with repetitive DNA to fill in any remaining gaps in the genomes. A paper describing the study, which shows that non-B DNA is enriched in the newly sequenced segments of the genomes and suggests potential new functions, was published in the journal Nucleic Acids Research.

In Down syndrome mice, 40Hz light and sound improve cognition, neurogenesis and connectivity

Studies by a growing number of labs have identified neurological health benefits from exposing human volunteers or animal models to light, sound and/or tactile stimulation at the brain’s “gamma” frequency rhythm of 40Hz. In the latest such research at The Picower Institute for Learning and Memory and Alana Down Syndrome Center at MIT, scientists found that 40Hz sensory stimulation improved cognition and circuit connectivity and encouraged the growth of new neurons in mice genetically engineered to model Down syndrome.

Li-Huei Tsai, Picower Professor at MIT and senior author of the new study in PLOS ONE, said that the results are encouraging but also cautioned that much more work is needed to test whether the method, called GENUS (for Gamma Entrainment Using Sensory Stimulation), could provide clinical benefits for people with Down syndrome. Her lab has begun a small study with human volunteers at MIT.

“While this work, for the first time, shows the beneficial effects of GENUS on Down syndrome using an imperfect mouse model, we need to be cautious as there is not yet data showing whether this also works in humans,” said Tsai, who directs The Picower Institute and The Alana Center, and is a member of MIT’s Brain and Cognitive Sciences faculty.

Children born before 34 weeks show lasting cognitive lag behind peers

Karolinska Institutet researchers report that children born before 34 weeks of gestation show persistent deficits in cognitive abilities at ages 9 to 10. Impairments appear independent of socioeconomic status, genetic predisposition, and prenatal or child-specific risk factors. Lower scores were observed in vocabulary, working memory, episodic memory, and recall tasks. Children born late preterm (34–36 weeks) or early term (37–38 weeks) performed comparably to those born full term.

Preterm birth affects approximately 13 million infants worldwide each year and remains a leading cause of childhood morbidity and mortality. Although advances in perinatal care have increased survival, cognitive deficits in these children continue to present major public health concerns.

Critical brain development processes that occur between 24 and 40 weeks of gestation may be disrupted by premature birth. Prior research has mostly focused on extremely or very , often overlooking those born moderately or late preterm, who constitute a large portion of preterm births.

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