A new study found that non-inherited mutations account for many heart defects, suggesting that common pathways may underlie a wide range of common congenital diseases. New mutations that are absent in parents but appear in their offspring account for at least 10% of severe congenital heart disease, reveals a massive genomics study led by researchers [...]

Researchers have identified four new genetic variants associated with an increased risk of testicular cancer, supporting the notion that testicular cancer is a disorder of germ cell development and maturation. Philadelphia — A new study looking at the genomes of more than 13,000 men identified four new genetic variants associated with an increased risk of [...]

Scientists have identified a way to flip a genetic switch off to halt tumor growth, demonstrating a potential new therapy in mice that impacts tumor growth in a significant way. Approximately 90 percent of cancers start within tissues that form the inner linings of various organs. Decades of accumulated genetic mutations can, on occasion, induce [...]

In a newly published study, researchers show how Down syndrome and low SNX27 are connected, discovering that the extra chromosome inherited in Down syndrome impairs learning and memory because it leads to low levels of SNX27 protein in the brain. What is it about the extra chromosome inherited in Down syndrome—chromosome 21—that alters brain and [...]

In a newly published study, researchers examine the mitochondrial genome diversity of 43 giant squid samples collected from across the range of the species, finding that there is only one global species of giant squid, Architeuthis. The giant squid is one of the most enigmatic animals on the planet. It is extremely rarely seen, except [...]

By using a laboratory technique known as somatic cell nuclear transfer, scientists have produce cloned embryos of the extinct frog Rheobatrachus silus. The genome of an extinct Australian frog has been revived and reactivated by a team of scientists using sophisticated cloning technology to implant a “dead” cell nucleus into a fresh egg from another [...]

Geneticists at the University of Arizona have discovered an African American Y chromosome with lineage that diverged from previously known Y chromosomes about 338,000 ago, pushing back the time the last common Y chromosome ancestor lived by almost 70 percent. UA geneticists have discovered the oldest known genetic branch of the human Y chromosome – [...]

A team of Yale researchers discovered that specialized RNAs called piRNAs guide epigenetic factors to numerous sites throughout the genome of the fruit fly Drosophila, where these switches work to turn genes on or off. If a genome is the blueprint for life, then the chief architects are tiny slices of genetic material that orchestrate [...]

A newly published study from the University of Adelaide shows that calcified dental plaque (dental calculus) found on ancient teeth from 34 early European skeletons indicates that the transition from hunter-gatherer to farming shifted the oral microbial community to a disease-associated configuration. DNA preserved in calcified bacteria on the teeth of ancient human skeletons has [...]

Researchers from the Broad Institute have developed a tool known as the Composite of Multiple Signals (CMS) test to detect the genetic signals of positive selection and trace these signals to specific sites in the genome, generating a list of 412 candidate signals. For decades, the human genome could only tell us what we already [...]

Scientists from Yale University have clearly identified the mutations that are responsible for uterine serous carcinoma (USC) tumors, a finding that could lead to new treatment opportunities. In a major breakthrough for uterine serous carcinoma (USC) — a chemo-resistant, aggressive form of endometrial cancer, Yale researchers have defined the genetic landscape of USC tumors, findings [...]

Scientists at Cornell University believe that the Scarecrow gene – the first gene discovered to control Kranz anatomy, which leads to more efficient photosynthesis – may lead to new varieties of staple crops with higher yields. With projections of 9.5 billion people by 2050, humankind faces the challenge of feeding modern diets to additional mouths [...]