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% 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.
A new study aims to provide healthy couples who have a child affected by a developmental disorder with a personalized pre-conception risk evaluation, in order to determine the likelihood of a future child being affected by the same condition.
Cat breeds differ from each other in behavior with regard to activity, aggressiveness, shyness, sociability and stereotypical behavior. A study conducted at the University of Helsinki discovered that behavioral traits are highly heritable. Heritability of behavior explains differences between breeds.
Scientists in Japan have developed a way of amplifying DNA on a scale suitable for use in the emerging fields of DNA-based computing and molecular robotics. By enabling highly sensitive nucleic acid detection, their method could improve disease diagnostics and accelerate the development of biosensors, for example, for food and environmental applications.
Despite how essential plants are for life on Earth, little is known about how parts of plant cells orchestrate growth and greening. By creating mutant plants, UC Riverside researchers have uncovered a cellular communication pathway sought by scientists for decades.
In the largest study to date on developmental delay, researchers analyzed genomic data from over 31,000 parent-child trios and found more than 45,000 de novo mutations, and 40 novel genes. This will provide valuable information to clinicians and to drug developers.
Sickle cell disease is a form of anemia that is inherited when both parents are carriers of a mutation in the hemoglobin gene. Currently, it can only be diagnosed in pregnancy by carrying out an invasive test that has a small risk of miscarriage and is therefore sometimes declined by parents. Now, researchers have developed a noninvasive prenatal test for the disease.