Researchers have found a possible counterpunch to the drug resistance of melanoma, the most dangerous form of skin cancer.
Administration of the amino acid L-serine, a dietary supplement, contributes to the improvement of the communicative and motor skills of a patient with a mutation that alters glutamate receptors.
New research from the national psychiatric project, iPSYCH, shows that a specific gene is associated with an increased risk of cannabis abuse. The gene is the source of a so-called nicotine receptor in the brain, and people with low amounts of this receptor have an increased risk of cannabis abuse.
Cohesin is a protein complex that plays a key role in cell division; its role in 3D genome structure was described in recent years. Researchers at CNIO have found new functions in the peculiar 3D genome structure of mouse embryonic stem cells. Research on cohesin will help understand how its malfunction contributes to tumorigenesis in some types of cancer, as well as to rare diseases such as Cornelia de Lange syndrome
A drug that helps regulate bone development has boosted growth rates in children with achondroplasia -- the most common type of dwarfism -- in a trial by Melbourne's Murdoch Children's Research Institute. Phase 2 trial results in children aged 5 to 14 years are published today in the New England Journal of Medicine. The project is now in Phase 3 to test the drug, vosoritide, in a larger group of patients aged 5 to 18 years.
Sea otters have very low genetic diversity, a UCLA-led team of life scientists reports June 18 in the journal Molecular Biology and Evolution. The findings have implications for the conservation of rare and endangered species, in which a lack of genetic diversity can increase the risk of extinction.
A collaboration involving the Icahn School of Medicine at Mount Sinai, the German Heart Center Munich, AstraZeneca, and Karolinska Institutet in Sweden has demonstrated that more than 30 percent of heart disease risk stems from genetic factors, much more than was previously understood. The study findings introduce the biology of gene networks as a means to better understand the heritability and genetic underpinnings of heart disease.
Researchers have identified a genetic mutation that caused an 11-year-old girl to suffer a fatal reaction to infection with the Hepatitis A virus (HAV). The study, which will be published June 18, 2019 in the Journal of Experimental Medicine, reveals that mutations in the IL18BP gene causes the body's immune system to attack and kill healthy liver cells, and suggests that targeting this pathway could prevent the deaths of patients suffering rapid liver failure in response to viral infection.
Scientific journals and funding bodies often require researchers to deposit individual genetic data from studies in research repositories in order to increase data sharing with the aim of enabling the reproducibility of new findings, as well as facilitating new discoveries. However, the introduction of new regulations such as the EU General Data Protection Regulation (GDPR) can complicate this.
Researchers have shown that genes regulating iron metabolism in the body are responsible for excess liver iron. High levels of iron in the liver are linked to a number of serious health conditions including cancer, diabetes, high blood pressure and cardiovascular as well as liver disease. But measuring liver iron is difficult and until recently could only be done through an invasive biopsy.