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Whether they are working with patients in clinical trials or with chromosomes in cell cultures, scientists and physicians in the Boston area and beyond are testing a wide variety of new ways to help people with Down syndrome. At the New England Down Syndrome Symposium, presented by the Alana Down […]

“Civilization advances by extending the number of important operations which we can perform without thinking of them.” In this quote, the philosopher A. Whitehead underlines the importance of automated low-level tasks when performing a complex and repetitive task. Tying shoelaces, writing, walking… our mind is relieved from the elementary actions […]

Using a new variant to repair DNA will improve both safety and effectiveness of the much-touted CRISPR-Cas9 tool in genetic research, Michigan Medicine researchers say. Those two key problems – safety and efficacy – are what continue to hold CRISPR-Cas9 gene targeting back from its full clinical potential, explains co-senior […]

Researchers at the Case Western Reserve University School of Medicine have identified a new target in the development of Alzheimer’s disease (AD) that could lead to therapies focused on treating the neurodegenerative condition early in its progression. The discovery helps bolster a promising approach to AD research: finding and manipulating […]

In recent years, targeted therapies have cemented their place as some of the most important tools in cancer treatment. These medicines are designed to block specific signals that tumour cells use to grow and spread, while at the same time leaving normal cells unharmed. Targeted therapies can significantly extend patients’ […]

Doctors at the University of Virginia School of Medicine are launching an ambitious effort in sub-Saharan Africa to target the dual scourges of sepsis and tuberculosis, a combination that kills up to half the people who contract it. UVA Health Drs. Scott Heysell, Christopher Moore and Tania Thomas are seeking to […]

When scientists study the neuronal mechanisms responsible for neurodegenerative diseases like Parkinson’s, they can open the door to promising new approaches to treating those diseases with drugs. But when a person with Parkinson's dies, looking at their brain reveals little about the cells inside and offers only a glimpse into […]

Researchers at the Garvan Institute of Medical Research have uncovered a new form of DNA modification in the genome of zebrafish, a vertebrate animal that shares an evolutionary ancestor with humans ~400 million years ago. Dr Ozren Bogdanovic and his team discovered that unusually high levels of DNA repeats of […]

An international study co-led by researchers at the Garvan Institute of Medical Research has provided new guidance for the clinical treatment of two rare inherited immune disorders. Researchers combined global data on the two conditions, caused by variants of the genes CD27 and CD70, and diagnosed mostly in children. Their study revealed that […]

A large-scale study by Cardiff University and the University of Exeter has found the strongest evidence to date that genetics play a major role in most cases when babies born at full term are in the top or bottom 10% of the birth-weight spectrum. However, in the 3% of babies […]

The National Institutes of Health today announced 19 recommendations in six key areas of asthma diagnosis, management and treatment. The new guidance, published in the Journal of Allergy and Clinical Immunology, represents the first updates to federal comprehensive asthma management and treatment guidelines in more than a decade and focuses on […]

Immunotherapies are a promising anticancer arsenal and work by mobilizing the immune system to recognize and destroy cancer cells. Currently, however, only a third of patients respond to immunotherapies, in part because the tumour environment can be hostile to immune cells, depriving them of their source of energy, which diminishes treatment […]

A consensus more than 90-years-old on the mechanisms which regulate the day-night rhythm in heart rate has been fundamentally challenged by an international team of scientists from Manchester, London, Milan, Maastricht, Trondheim and Montpellier. The vagus nerve – one of the nerves of the autonomic nervous system which supplies internal […]

An international study has found a link between the brain’s network connections and grey matter atrophy caused by certain types of epilepsy, a major step forward in our understanding of the disease. In neuroscience, it is becoming increasingly clear that the brain’s connectome is as important as its anatomy when […]

Scientists reverse age-related vision loss, glaucoma damage in mice. Harvard Medical School scientists have successfully restored vision in mice by turning back the clock on aged eye cells in the retina to recapture youthful gene function. The team’s work, described in Nature, represents the first demonstration that it may be possible […]

The labyrinth of jumbled blood vessels in the tumour microenvironment remains one of the toughest blockades for cellular therapies to penetrate and treat solid tumours. Now, in a new study published online in Nature Cancer, Penn Medicine researchers found that combining chimeric antigen receptor (CAR) T cell therapy with a PAK4 […]

Rusted iron pipes can react with residual disinfectants in drinking water distribution systems to produce carcinogenic hexavalent chromium in drinking water, reports a study by engineers at UC Riverside. Chromium is a metal that occurs naturally in the soil and groundwater. Trace amounts of trivalent chromium eventually appear in the drinking […]

When healthcare professionals treat patients suffering from advanced cancers, they usually need to use a combination of different therapies. In addition to cancer surgery, the patients are often treated with radiation therapy, medication, or both. Medication can be combined, with different drugs acting on different cancer cells. Combinatorial drug therapies […]

A team of researchers at the Case Western Reserve University School of Medicine has taken a major step toward understanding the mechanisms involved in the formation of large clumps of tau protein, a hallmark of Alzheimer’s disease and several other neurodegenerative disorders. Their findings may help to better understand the […]

If stem cell science were bread baking, then working with pluripotent stem cells would be like starting with flour, water and yeast. Transforming those base materials into a delicious loaf of bread requires knowing which ingredients to add and how to manipulate the dough and its environment, such as by mixing […]

In mouse study, loss of molecule contributes to disease while surplus reduces symptoms. Osteoarthritis is one of the most common problems associated with ageing, and although there are therapies to treat the pain that results from the breakdown of the cartilage that cushions joints, there are no available therapies to […]

Millions of sperm enter the race to fertilize, but only one wins the sprint to the egg. Now Yale researchers have discovered that these winning sperm possess a few key molecular characteristics that differentiate them from those left behind, they report in the journal eLife. Sperm tails are lined with […]

A team co-led by a scientist at the University of California, Riverside, has developed a method to study how HIV mutates to escape the immune system in multiple individuals, which could inform HIV vaccine design. HIV, which can lead to AIDS, evolves rapidly and attacks the body’s immune system. Genetic mutations in […]

University of Minnesota researchers have discovered a potential target for the research and development of future therapies to mitigate the symptoms of a series of genetic disorders called laminopathies. Laminopathies cause a wide variety of conditions in humans, from skeletal muscular dystrophy and neuropathy to premature ageing. In a study […]

Just a few doses of an experimental drug can reverse age-related declines in memory and mental flexibility in mice, according to a new study by UC San Francisco scientists. The drug, called ISRIB, has already been shown in laboratory studies to restore memory function months after traumatic brain injury (TBI), reverse […]

Healthy cells and cells with Type 2 diabetes use completely different pathways to manage blood sugar levels, according to results from a study in mice. Researchers used a trans-omic approach, combining data from genes (transcriptomics) and metabolites (metabolomics) to identify and connect the many separate processes involved in responding to […]

Neuroscientists don’t know precisely what brain circuits control wakefulness and sleep, nor exactly how drugs for general anaesthesia affect those circuits. But a new study from Penn Medicine researchers brings neuroscience a step closer to solving that important conundrum. A team of researchers from the Perelman School of Medicine at […]

As time goes by, the tips of your chromosomes—called telomeres—become shorter. This process has long been viewed as an unwanted side-effect of ageing, but a recent study shows it is in fact good for you. “Telomeres protect the genetic material,” says Titia de Lange, Leon Hess Professor at Rockefeller. “The DNA […]

About 25 per cent of the U.S. population suffers from fatty liver disease, a condition that can lead to fibrosis of the liver and, eventually, liver failure. Currently, there is no easy way to diagnose either fatty liver disease or liver fibrosis. However, MIT engineers have now developed a diagnostic […]

While doctors can successfully treat some types of skin cancer at the surface with human-engineered viruses, scientists have yet to find a way to inject these types of viruses to seek and destroy other cancers in the body, such as lung cancer. But medical researchers at Case Western Reserve University […]