Genetics

As we age, blood stem cells, the essential source of new blood cells in the body, can accumulate genetic mutations. These mutations can give the cells a growth advantage, laying the foundation for developing serious health conditions. Now, scientists at The Jackson Laboratory (JAX) have not only discovered the mechanism that fuels their unchecked growth but have also found a way to stop it.

Differences among the DNA of seven ape species—including humans—are greater than originally thought, according to an international team led by researchers at Penn State, the National Human Genome Research Institute (NHGRI) and the University of Washington. They revealed the genetic details with “complete” reference genomes, which are standardized sequences of a species’ genes and other chromosomal regions.

New candidate genes which could be responsible for deafness have been identified. Congenital deafness (hearing loss from birth) is common, impacting around one in 1,000 babies born in the UK. The condition affects communication, social and cognitive development of children and general quality of life. It is largely caused by mutations in genes, but many of these genes remain to be discovered. Understanding the exact mutations that cause deafness could hold the key to devising treatments.

A new study published in Nature Cardiovascular Research found that while carotid artery narrowing can lead to stroke in both men and women, the symptoms and plaque characteristics often differ between the sexes. Even though the main types of cells in the plaques are similar, important differences exist in the smaller structures within those cells.

Collaborative research led by investigators at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center defines a novel approach to understanding how certain proteins called transcription factors determine which genetic programs will drive cell growth and maturation. The study is published in the journal Science.

New research shows how small shifts in the molecular makeup of a virus can profoundly alter its fate. These shifts could turn a deadly pathogen into a harmless bug or supercharge a relatively benign virus, influencing its ability to infect humans and cause dangerous outbreaks.

Our brains contain billions of neurons and trillions of connections, and scientists are only beginning to understand the intricate process required to build this level of complexity. This includes uncovering the role of microRNAs: small, single-stranded molecules that help regulate protein production throughout the brain and the rest of the body.

Knocking out a single gene reprograms part of the large intestine to function like the nutrient-absorbing small intestine. In a preclinical study, Weill Cornell Medicine investigators showed that the technique reversed the malnutrition that results when most of the small intestine is removed.

Gene therapy, a technique that is revolutionizing the treatment of multiple genetic conditions, including eye and muscle diseases and blood disorders, requires efficient and specific delivery of the genetic material to the tissue and cell type of interest.

In mice, autism symptoms arise when a certain pair of competing nerve proteins falls out of equilibrium, according to a study published in the open-access journal PLOS Biology by Dongdong Zhao of Wenzhou Medical University, China, Yun-wu Zhang of Xiamen University, China, and colleagues.