University of North Carolina scientists have conducted the largest-ever whole genome sequencing study of schizophrenia to provide a more complete picture of the role the human genome plays in this disease. “Our results suggest that ultra-rare structural variants that affect the boundaries of a specific genome structure increase risk for schizophrenia. Alterations in these boundaries may lead to dysregulation of gene expression, and we think future mechanistic studies could determine the precise functional effects these variants have on biology,“ said senior author Jin Szatkiewicz, Ph.
Researchers have discovered a technique for directly reprogramming skin cells into light-sensing rod photoreceptors used for vision. The lab-made rods enabled blind mice to detect light after the cells were transplanted into the animals’ eyes. “This is the first study to show that direct, chemical reprogramming can produce retinal-like cells, which gives us a new and faster strategy for developing therapies for age-related macular degeneration and other retinal disorders caused by the loss of photoreceptors.
Many cases of autism spectrum disorders (ASDs) may result from problems in immune cells that normally work to trim back unneeded brain connections in early life, suggests a new study led by scientists at Scripps Research. The study examined the effects of a set of gene mutations that account for a small percentage of autism disorders. These mutations are known to cause a general overproduction of many proteins in brain cells, but how that overproduction leads to autism behaviors has been a mystery.
Immunocompromised is a broad term reflecting the fact someone’s immune system isn’t as strong and balanced as it should be. Because immunocompromised people’s immune systems are defective or ineffective, they’re unable to stop invasion and colonisation by foreign intruders, including the SARS-CoV-2 virus, which causes COVID-19. An under-performing immune response leaves people susceptible to infection, but the severe symptoms in some people are actually caused by a huge immune response sweeping over the whole body.
A new study unpacks why people who base their self-worth on their financial success often feel lonely in everyday life. “When people base their self-worth on financial success, they experience feelings of pressure and a lack of autonomy, which are associated with negative social outcomes,” says coauthor Lora Park, an associate professor of psychology at the University at Buffalo. “Feeling that pressure to achieve financial goals means we’re putting ourselves to work at the cost of spending time with loved ones, and it’s that lack of time spent with people close to us that’s associated with feeling lonely and disconnected,” says Deborah Ward, a graduate student and adjunct faculty member in the psychology department.
People with a gene variant that puts them at high risk for Alzheimer’s disease are protected from its debilitating effects if they also carry a variant of a completely different gene, Stanford University School of Medicine investigators report in a large new study. Their findings suggest that a substantial fraction of the estimated 15% of Americans carrying the high-risk gene variant are protected to some degree from Alzheimer’s disease by a variant of the other gene.
Creativity is one of humanity’s most distinctive abilities and enduring mysteries. Innovative ideas and solutions have enabled our species to survive existential threats and thrive. Yet, creativity cannot be necessary for survival because many species that do not possess it have managed to flourish far longer than humans. So what drove the evolutionary development of creativity? A new neuroimaging study led by Yongtaek Oh, a Drexel University doctoral candidate, and John Kounios, PhD, a professor in Drexel’s College of Arts and Sciences and director of its Creativity Research Lab, points to an answer.
Imagine you are meeting a friend for dinner at a new restaurant. You may try dishes you haven’t had before, and your surroundings will be completely new to you. However, your brain knows that you have had similar experiences — perusing a menu, ordering appetizers, and splurging on dessert are all things that you have probably done when dining out. MIT neuroscientists have now identified populations of cells that encode each of these distinctive segments of an overall experience.