Posted in biotech/medical, genetics | Leave a Comment on In vivo CRISPR–Cas9 genome editing in mice identifies genetic modifiers of somatic CAG repeat instability in Huntington’s disease
A novel in vivo screening strategy identifies new modifiers of somatic CAG repeat expansion that contribute to age of onset in Huntington’s disease.
In a groundbreaking shift in our understanding of mutations, researchers have discovered types of DNA
DNA, or deoxyribonucleic acid, is a molecule composed of two long strands of nucleotides that coil around each other to form a double helix. It is the hereditary material in humans and almost all other organisms that carries genetic instructions for development, functioning, growth, and reproduction. Nearly every cell in a person’s body has the same DNA. Most DNA is located in the cell nucleus (where it is called nuclear DNA), but a small amount of DNA can also be found in the mitochondria (where it is called mitochondrial DNA or mtDNA).
As the capabilities of generative AI models have grown, you’ve probably seen how they can transform simple text prompts into hyperrealistic images and even extended video clips.
More recently, generative AI has shown potential in helping chemists and biologists explore static molecules, like proteins and DNA. Models like AlphaFold can predict molecular structures to accelerate drug discovery, and the MIT-assisted “RFdiffusion,” for example, can help design new proteins.
One challenge, though, is that molecules are constantly moving and jiggling, which is important to model when constructing new proteins and drugs. Simulating these motions on a computer using physics—a technique known as molecular dynamics —can be very expensive, requiring billions of time steps on supercomputers.
Researchers led by electrical engineers at the University of California San Diego have developed a better way to perform the comparative analysis of entire genomes. This approach can be used to study relationships between different species across geological time scales.
This new approach is poised to unlock discoveries regarding how evolution has shaped present-day genomes and also how the tree of life is organized. The new method, named CASTER, is described in a paper published in Science on 23 January 2025.
CASTER is poised to offer biologists a far more scalable approach than state-of-the-art for comparing full genomes. This is especially relevant given the exploding number of sequenced genomes of both living and also extinct species.
Many science fiction authors try to incorporate scientific principles into their work, but Ian Tregillis, who is a contributing author of the Wild Cards book series when he’s not working as a physicist at Los Alamos National Laboratory, took it one step further: He derived a formula to describe the dynamics of the fictional universe’s viral system.
In independent research published in the American Journal of Physics, Tregillis and George R.R. Martin derive a formula for viral behavior in the Wild Cards universe.
Wild Cards is a science fiction series written by a collection of authors and edited by Martin and Melinda M. Snodgrass. Sitting at over 30 volumes, the books are about an alien virus called the Wild Card that mutates human DNA. Martin is credited as a co-author of the paper, making it his first peer-reviewed physics publication.
Scientists at the National Institute of Standards and Technology (NIST) have created a new thermometer using atoms boosted to such high energy levels that they are a thousand times larger than normal. By monitoring how these giant “Rydberg” atoms interact with heat in their environment, researchers can measure temperature with remarkable accuracy. The thermometer’s sensitivity could improve temperature measurements in fields ranging from quantum research to industrial manufacturing.
Unlike traditional thermometers, a Rydberg thermometer doesn’t need to be first adjusted or calibrated at the factory because it relies inherently on the basic principles of quantum physics. These fundamental quantum principles yield precise measurements that are also directly traceable to international standards.
“We’re essentially creating a thermometer that can provide accurate temperature readings without the usual calibrations that current thermometers require,” said NIST postdoctoral researcher Noah Schlossberger.
Researchers from Tokyo Metropolitan University have identified a groundbreaking new superconducting material. By combining iron, nickel, and zirconium in specific ratios, they synthesized a novel transition metal zirconide, with varying proportions of iron and nickel.
While pure iron zirconide and nickel zirconide do not exhibit superconductivity, the new mixtures demonstrate superconducting properties, forming a “dome-shaped” phase diagram characteristic of unconventional superconductors. This finding represents a significant step forward in the search for high-temperature superconducting materials that could have widespread applications.
Superconductors are already integral to advanced technologies, such as superconducting magnets in medical imaging devices, maglev trains, and power transmission cables. However, current superconductors require cooling to extremely low temperatures, typically around 4 Kelvin, which limits their practicality. Researchers are focused on discovering materials that achieve zero electrical resistance at higher temperatures, especially near the critical threshold of 77 Kelvin, where liquid nitrogen can replace liquid helium as a coolant—making the technology more accessible and cost-effective.
AI tools are analyzing images and tissue samples to detect cancer sooner and more precisely. Doctors hope to improve and accelerate patient care.
A major measles alert has been issued for two Australian states.
An urgent measles warning has been issued for two states after a toddler arrived in Australia from Vietnam with the infectious and deadly disease.
The South Australian government issued a warning after being notified of a three-year-old infected with measles travelling from Vietnam on Singapore Airlines flight SQ279, landing in Adelaide about 8.45am on Tuesday January 14.
Over the week, the toddler visited a number of places, including Kmart and Coles supermarket in Ingle Farm Shopping Centre on Wednesday January 15 before attending the Women’s and Children’s Hospital on Friday January 17.
Medical breakthroughs often change lives, but some redefine what’s possible for the future of healthcare. This historic achievement brings hope to millions around the world.
Discover the story of how one doctor’s groundbreaking work is reshaping what we know about hearing loss and recovery.
Imagine living in a world of perpetual silence—where the laughter of loved ones and the melody of a favorite song are mere concepts, never experienced. For millions across the globe, this silence is a daily reality caused by hearing loss. Yet, a breakthrough in medical science has rewritten the possibilities, turning silence into sound. At the center of this transformation stands Dr. Mashudu Tshifularo, a South African surgeon whose revolutionary use of 3D-printed implants has achieved what was once deemed impossible: curing deafness.
