The tales of humanity’s distant past were once revealed only by digging up ancient settlements, bones, and artifacts or by reading ancient texts, from the cuneiform clay tablets of the Hittites to the vivid chronicles of Herodotus. In the past decade, however, a powerful new window has opened into humanity’s past, in the stories written in the genes of our distant ancestors. Since 2014, the number of individuals from thousands of years ago whose DNA has been analyzed has leapt from a mere handful to more than 8,000. That has ushered in what Kristian Kristiansen, PhD, Professor of Archaeology at University of Gothenburg in Sweden, calls a major scientific revolution. “It has created a new kind of independent evidence to answer questions in archeology that had never before been resolved,” Dr. Kristiansen explains.
Researchers at Johns Hopkins Medicine report that an experimental drug first developed to treat kidney disease prolongs survival and improves muscle function in mice genetically engineered to develop a severe form of Duchenne muscular dystrophy (DMD). According to the Muscular Dystrophy Association (MDA), DMD affects 1 in every 5,000 live male births and results in severe muscle wasting and weakness because of the lack of a protein called dystrophin, which is needed to strengthen muscle cells and protect them from mechanical injury. The dystrophin gene is in the X chromosome, so DMD mainly affects boys. Girls only get the disease if both X chromosomes are affected. Muscle symptoms begin between the ages of 2 and 4, and, by their early teens, most individuals with DMD are unable to walk. Dystrophin is also important to heart muscle, so heart failure often occurs in later teenage years into the early 20s. According to the MDA, people with DMD generally live until their late 20s or early 30s. There is no cure, but physical therapy and corticosteroids reduce inflammation and help delay muscle decline, helping symptoms, and improving quality of life. Newer gene-targeting treatments are being tested, but they remain limited to a small number of patients targeted.
Over the past 30 years, progress in early detection and treatment of cancer has helped reduce the overall death rate by more than 30%. Pancreatic cancer, however, has remained difficult to treat. Only 1 in 9 people survive five years after diagnosis, in part because this cancer is protected by biological factors that help it resist treatment. In hopes of turning the tide, UCLA researchers have developed a technology that delivers a combination therapy to pancreatic tumors using nanoscale particles loaded with irinotecan, a chemotherapy drug approved as part of a drug regimen for pancreatic cancer, and 3M-052, an investigational drug that can boost immune activity and help overcome tumors’ resistance.
Mitochondria are compartments–so-called “organelles”–in our cells that provide the chemical energy supply we need to move, think, and live. Chloroplasts are organelles in plants and algae that capture sunlight and perform photosynthesis. At a first glance, they might look worlds apart. But an international team of researchers, led by scientists at the University of Bergen, have used data science and computational biology to show that the same “rules” have shaped how both organelles–and more–have evolved throughout life’s history. Their results were published on September 16, 2022 in Cell Systems. The open-access article is titled “Evolutionary Inference Across Eukaryotes Identifies Universal Features Shaping Organelle Gene Retention.”
The brain mechanisms that cause aggressive behavior have been well studied. Far less understood are the processes that tell the body when it’s time to stop fighting. Now, a new study by Salk scientists identifies a gene and a group of cells in the brain that play a critical role in suppressing aggression in fruit flies. The findings, published in Science Advances on September 7, 2022, have implications for disorders such as Parkinson’s disease, which can sometimes cause behavioral changes like increased aggression and combativeness. The open-access article is titled “A Neurogenetic Mechanism of Experience-Dependent Suppression of Aggression.”
A mucus-based prophylactic gel developed at KTH Royal Institute of Technology in Stockholm, Sweden has proven 70 percent effective in lab tests against HIV, and 80 percent effective against herpes. The viral prophylactic tests were conducted in a lab on several types of cells. The results were reported on September 16, 2022 in Advanced Science. The open-access article is titled “Synthetic Mucin Gels with Self-Healing Properties Augment Lubricity and Inhibit HIV-1 and HSV-2 Transmission.” Lead-author Hongji Yan (photo), PhD, a biomaterials researcher at KTH, says the promising results raise hope that, when it becomes available as a product, the gel could help reverse troubling trends in HIV spread.
Adults with attention deficit/hyperactivity disorder (ADHD) are at greater risk of developing a range of cardiovascular diseases than those without the condition, according to a large observational study led by researchers at Karolinska Institutet and Örebro University in Sweden. The researchers say the findings, published in World Psychiatry, underscore the need to monitor cardiovascular health in people with ADHD.
Claes H. Dohlman, MD, PhD, whose pioneering research at Massachusetts Eye and Ear and in the Department of Ophthalmology at Harvard Medical School (HMS) has forever changed the way conditions of the cornea are understood and treated, has been presented with the 2022 António Champalimaud Vision Award for his vast contributions to vision research. Dr. Dohlman, who was born in Uppsala, Sweden in 1922 and trained at the University of Lund and the Karolinska Institute in Stockholm, received the award along with fellow 2022 Champalimaud Laureate, Gerrit R. J. Melles, MD, PhD, founder of the Netherlands Institute for Innovative Ocular Surgery (NIIOS) and the Melles Cornea Clinic in Rotterdam. The award recipients were honored on September 15, 2022, during a ceremony held at the Champalimaud Centre for the Unknown in Lisbon, Portugal. The award carries a €1,000,000 ($1,000,000) prize that is shared among the winners to be used for furthering their research.
Daniel Geschwind, MD, PhD, the Gordon and Virginia MacDonald Distinguished Professor of Human Genetics, Neurology, and Psychiatry at UCLA, has been awarded the National Academy of Medicine’s (NAM) 2022 Rhoda and Bernard Sarnat International Prize in Mental Health in recognition of his pioneering research and leadership in autism genetics. The Sarnat Prize, which includes a medal and a $20,000 prize, is NAM’s highest honor related to the brain and mental health. Dr. Geschwind, who was elected to the elite panel in 2011, will receive the award at NAM’s annual meeting on October 16.