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A new, rare genetic form of dementia has been discovered by a team of Penn Medicine researchers. This discovery also sheds light on a new pathway that leads to protein build up in the brain—which causes this newly discovered disease, as well as related neurodegenerative diseases like Alzheimer’s Disease—that could be targeted for new therapies. The study was published today in Science.

Alzheimer’s (AD) is a neurodegenerative disease characterized by a buildup of proteins, called , in certain parts of the brain. Following an examination of human brain tissue samples from a deceased donor with an unknown neurodegenerative disease, researchers discovered a novel mutation in the Valosin-containing protein (VCP) gene in the brain, a buildup of tau proteins in areas that were degenerating, and neurons with empty holes in them, called vacuoles. The team named the newly discovered disease Vacuolar Tauopathy (VT)—a neurodegenerative disease now characterized by the accumulation of neuronal vacuoles and tau protein aggregates.

“Within a cell, you have proteins coming together, and you need a process to also be able to pull them apart, because otherwise everything kind of gets gummed up and doesn’t work. VCP is often involved in those cases where it finds proteins in an aggregate and pulls them apart,” Edward Lee, MD, Ph.D., an assistant professor of Pathology and Laboratory Medicine in the Perelman School of Medicine at the University of Pennsylvania. “We think that the mutation impairs the proteins’ normal ability to break aggregates apart.”

Researchers at Rockefeller University have just released findings from a new study, done in mice, which identifies a gene that is critical for short-term memory but functions in a part of the brain not traditionally associated with memory. Classical models for short-term memory typically assume that all neuronal activity is contained within the prefrontal cortex (PFC), yet, data from this new study suggests that a G-protein coupled receptor in the thalamus may play a large role. Data from the study was published recently in Cell through an article titled “A Thalamic Orphan Receptor Drives Variability in Short Term Memory.”

Interestingly, in order to discover new genes and brain circuits that are important for short-term memory, the researchers turned to studying genetically diverse mice, rather than inbred mice commonly used in research.

“We needed a population that is diverse enough to be able to answer the question of what genetic differences might account for variation in short-term memory,” explained co-senior study investigator Praveen Sethupathy, PhD, an associate professor of biomedical sciences in Cornell’s College of Veterinary Medicine and director of the Cornell Center for Vertebrate Genomics.

Fecal transplants could one day be used as a therapy to restore cognitive function in the elderly—according to new research from the University of East Anglia, the University of Florence and the Quadram Institute.

A new study published today shows how fecal transplants from older to younger mice altered their , which in turn impacted their spatial learning and memory.

The research team hope that reversing the procedure could one day see fecal transplantation used to combat cognitive decline among the elderly.

Genes inherited from Neanderthal ancestors may be involved in some cases of severe Covid-19 disease, researchers in Germany reported Wednesday.

A team of experts on Neanderthal genetics examined a strand of DNA that has been associated with some of the more serious cases of Covid-19 and compared it to sequences known to have been passed down to living Europeans and Asians from Neanderthal ancestors.

The DNA strand is found on chromosome 3, and a team of researchers in Europe has linked certain variations in this sequence with the risk of being more severely ill with Covid-19.

Technion researchers have developed accurate radiation sources that are expected to lead to breakthroughs in medical imaging and other areas. They have developed precise radiation sources that may replace the expensive and cumbersome facilities currently used for such tasks. The suggested apparatus produces controlled radiation with a narrow spectrum that can be tuned with high resolution, at a relatively low energy investment. The findings are likely to lead to breakthroughs in a variety of fields, including the analysis of chemicals and biological materials, medical imaging, X-ray equipment for security screening, and other uses of accurate X-ray sources.

Published in the journal Nature Photonics, the study was led by Professor Ido Kaminer and his master’s student Michael Shentcis as part of a collaboration with several research institutes at the Technion: the Andrew and Erna Viterbi Faculty of Electrical Engineering, the Solid State Institute, the Russell Berrie Nanotechnology Institute (RBNI), and the Helen Diller Center for Quantum Science, Matter and Engineering.

The researchers’ paper shows an experimental observation that provides the first proof-of-concept for theoretical models developed over the last decade in a series of constitutive articles. The first article on the subject also appeared in Nature Photonics. Written by Prof. Kaminer during his postdoc at MIT, under the supervision of Prof. Marin Soljacic and Prof. John Joannopoulos, that paper presented theoretically how two-dimensional materials can create X-rays. According to Prof. Kaminer, “that article marked the beginning of a journey towards sources based on the unique physics of two-dimensional materials and their various combinations—heterostructures. We have built on the theoretical breakthrough from that article to develop a series of follow-up articles, and now, we are excited to announce the first experimental observation on the creation of X-ray radiation from such materials, while precisely controlling the radiation parameters.”

Austin startup Lift Aircraft calls Hexa, its electric vertical takeoff and landing (eVTOL) aircraft the future of personal flight. So far, it’s been compared to a drone and a flying car.

Hexa is essentially a recreational vehicle for the air, able to fly in 15-minute intervals at low altitudes. Lift plans to market them to millennials with disposable income and anyone chasing adrenaline, because a pilot’s license isn’t required. The COVID-19 pandemic delayed plans, but Lift still says it will be touring locations across the US where anyone meeting height, weight, and age requirements can pay to fly. As of November 2019, Lift says it had more than 15,000 flights on a waitlist to ride Hexa.

The company is also selling a small number of Hexas to buyers who will then rent them out. They cost $495,000, and only five are still available.

Drone solution provider MissionGO has completed the longest organ delivery by drone in Las Vegas last week with the Nevada Donor Network. The two test flights were carrying a human organ and tissue to various locations around Las Vegas.

The first of the two flights was transporting research corneas from the Southern Hills Hospital and Medical Center to Dignity Health at the St. Rose Dominican, San Martín Campus. The flight demonstrated the viability, value, efficiency gains, and delivery speed of using drones to deliver organs and medical supplies.

The second flight delivered a research kidney from an airport to a location on the outskirts of a small town in the Las Vegas desert. This second flight was the one that marked the longest organ delivery by drone. The flight beat the previous record that was set in April 2019 also by MissionGO.