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Next-generation sequencing (NGS) has emerged as an important high throughput technology in biomedical research and translation for its ability to accurately capture genetic information. But choosing proper analysis methods for identifying biomarkers from high throughput data remains a critical challenge for most users. For instance, RNA-sequencing (RNA-seq) is an NGS […]

Georgetown University, Lawrence Livermore National Laboratory (LLNL) scientists and collaborators have identified a protein that when removed from the body may help pancreatic cancer patients live longer. Pancreatic cancer is one of the most lethal forms of the disease and has the lowest survival rate. Because the tumors are solid, many modern […]

Here, researchers note some of the challenges inherent in trying to analyze data on human inheritance of longevity; it isn't as easy as it sounds. Considerable effort has gone into analysis of long-lived families to try to identify genetic variants that might explain why some lineages exhibit greater longevity than […]

One of the more intriguing findings to emerge from study of the relationship between stress response mechanisms in cellular metabolism and the pace of degenerative aging is that evolution has not optimized for life span. Many aspects of metabolism can be adjusted in small ways – in mice, worms, flies, […]

Recent advances are bringing cancer vaccines much closer to reality, giving patients another weapon in their arsenal of cancer treatments, according to Dr Madiha Derouazi, CEO of Amal Therapeutics and one of three winners of the 2020 EU Prize for Women Innovators. Arming our immune system to fight cancer has […]

A new molecular probe from Stanford University could help reveal how our brains think and remember. This tool, called Fast Light and Calcium-Regulated Expression or FLiCRE (pronounced “flicker”), can be sent inside any cell to perform a variety of research tasks, including tagging, recording and controlling cellular functions. “This work […]

A study by clinical scientists at The University of Manchester has shown that schizophrenia may – in some part – be caused by disordered functioning of the immune system. The first-ever trial in the schizophrenia of the powerful immune suppressant drug, Methotrexate, produced what the team described as ‘promising’ effects on […]

Unbiased, high-throughput analysis pipeline improves utility of “minibrains” for understanding development and diseases such as Zika infection. The ability to culture cerebral organoids, or “minibrains,” using stem cells derived from people has given scientists experimentally manipulable models of human neurological development and disease, but not without confounding challenges. No two […]

Writing in The Lancet, a group of researchers from Imperial College London introduce a new global survey of 65 million children aged 5-19 years old in 193 countries, showing that poor nutrition during school years may have caused a 20 cm height gap between the tallest and shortest nations. This […]

A new drug discovered through a research collaboration between the University at Buffalo and Tetra Therapeutics took a major step toward becoming a first-in-class treatment for Fragile X Syndrome, a leading genetic cause of autism. The drug, BPN14770, achieved positive topline results in phase 2 clinical study. The innovative treatment […]

Computer-augmented brains, cure to blindness, and rebuilding the brain after injury all sound like science fiction. Today, these disruptive technologies aren’t just for Netflix, “Terminator,” and comic book fodder — in recent years, these advances are closer to reality than some might realize, and they have the ability to revolutionize […]

A team of researchers led by the University of Wisconsin–Madison professor David Gamm is developing a transplantable retinal patch intended to help restore vision to military personnel blinded in the line of duty and to treat individuals with degenerative eye diseases such as macular degeneration. The technology, funded by a […]

Before their third birthdays, children already have an adult-like preference for visual fractal patterns commonly seen in nature, report University of Oregon researchers. That discovery emerged among children raised in a world of Euclidean geometry, such as in houses with rooms constructed with straight lines in a simple nonrepeating manner, […]

It’s a paradox that has puzzled epidemiologists for a long time. Why do some studies suggest that a higher body mass index (BMI) can end up “protecting” against bloodstream infections? A team of researchers from the Yale School of Public Health, in collaboration with colleagues at the Norwegian University of […]

People diagnosed with an inflammatory skin condition known as granuloma annulare (GA) develop raised red lesions that emerge in ring-like patterns on the skin. For those with a chronic condition, these lesions can cover much of the body and degrade their quality of life. Until now, however, there has been […]

Researchers from Skoltech and their colleagues from Russia and the US have described two new, compact Cas9 nucleases, the cutting components of CRISPR-Cas systems, that will potentially expand the Cas9 toolbox for genome editing. One of the two nucleases has been shown to work in human cells and thus can […]

Nearly two decades ago, a small-bodied “human-like” fossil, Homo floresiensis, was discovered on an island in Indonesia. Some scientists have credited the find, now nicknamed “Hobbit,” as representative of a human ancestor who developed dwarfed features after living on the island, while others suggest it represents modern human suffering from some […]

Henk-Jan Guchelaar knows all too well the serious problems that the side–effects of medication can cause. As a professor of clinical pharmacy at the University of Leiden in the Netherlands, he has spent the last two decades trying to get the link between medicine and our genes recognised more widely.  The stories he hears from patients […]

Using common crops and other plants to generate molecules used for therapeutic procedures is not a new idea. For instance, thanks to a novel mutation that switches off its immune system, a tobacco plant native to Australia has since been engineered to produce everything from flu and polio vaccines to […]

Huntington’s disease is a fatal inherited disorder that strikes most often in middle age with mood disturbances, uncontrollable limb movements, and cognitive decline. Years before symptom onset, brain imaging shows degeneration of the striatum, a brain region important for the rapid selection of behavioural actions. As the striatal neurons degenerate, […]

New research suggests testing people's memory over four weeks could identify who is at higher risk of developing Alzheimer's disease before it has developed. Importantly, the trial found testing people's ability to retain memories for longer time periods could predict this more accurately than classic memory tests, which test memory […]

The blood is the main source of studies on the immune system, despite the fact that most diseases are combated by immune cells in the body’s tissues. A new study from Karolinska Institutet and the University of Pennsylvania has identified which immune cells patrol the human body’s tissues and circulate […]

The two used methods for detecting amyloid pathology in Alzheimer's disease do not give unambiguous results, with the risk of incorrect or delayed care interventions. Now, researchers at Karolinska Institutet have found genetic explanations for the differences. The study is published in Molecular Psychiatry and may be important for more […]

For people in wealthy countries, diarrhea is usually nothing more than an uncomfortable inconvenience for a few days. But for a poor child in a developing country, repeated bouts of diarrhea can lead to serious health consequences such as malnutrition, stunted growth and cognitive deficits. Researchers at Washington University School […]

Epidemics and pandemics are not equal-opportunity killers. Seen through the archaeological record, incomplete as it may be, these waves of death victimized the marginalized and most vulnerable populations wherever they struck. In the U.S., the COVID-19 pandemic appears to be no different, striking Indigenous, Black and Latinx communities at far […]

CRISPR-Cas9 makes it easy to knock out or tweak a single gene to determine its effect on an organism or cell, or even another gene. But what if you could perform several thousand experiments at once, using CRISPR to tweak every gene in the genome individually and quickly see the […]

Memory loss associated with Alzheimer’s disease (AD) may be able to be restored by inhibiting certain enzymes involved in abnormal gene transcription, according to a preclinical study by researchers at the University at Buffalo. The findings could pave the way toward new treatments for Alzheimer’s disease. The paper will be […]

On a late summer day in 1953, a young man who would soon be known as patient H.M. underwent experimental surgery. In an attempt to treat his debilitating seizures, a surgeon removed portions of his brain, including part of a structure called the hippocampus. The seizures stopped. Unfortunately, for patient […]

Obesity has been linked to increased risk for over a dozen different types of cancer, as well as worse prognosis and survival. Over the years, scientists have identified obesity-related processes that drive tumour growth, such as metabolic changes and chronic inflammation, but a detailed understanding of the interplay between obesity […]

An international team of researchers has connected specific genetic regions which influence facial features. This means they can see the signals of normal facial features in the genome – but it is also hoped their work can shed light on craniofacial malformations such as cleft lip and palate. The findings […]