A global revolution in genetic sequencing is helping University of Otago scientists solve the mysteries of ultra-rare disorders, for one family at a time. It’s called the diagnostic odyssey: an ...

Scientists at The Wistar Institute have shown that a single injection of a small, circular piece of genetic instructions can ...

When University of Virginia graduate student Caeley Reever came across the word “stellular” – “little star” in Latin – she ...

A study by researchers at The Jackson Laboratory (JAX), the Broad Institute, and Yale University has identified how specific genetic changes function in cells to influence disease risk and other human ...

When genetic testing reveals a rare DNA mutation, doctors and patients are frequently left in the dark about what it actually means. Now, researchers at the Icahn School of Medicine at Mount Sinai ...

Genetic skeletal disorders are a large group of rare conditions that affect the development and growth of the skeleton. With 771 identified clinical entities, each disorder possesses unique ...

In the Department of Genetics, doctors are using genetic and genomic testing to pinpoint the exact cause of a patient’s condition—even when symptoms mimic more than one disorder. This clarity is ...

A new study from the Icahn School of Medicine at Mount Sinai shows that social determinants of health—including environmental ...

Prime editing can potentially repair the vast majority of known disease-causing human mutations, but the technology, first ...

New research published in Alzheimer’s & Dementia provides evidence that genetic variations related to brain fluid movement ...

Figure 1. ANKLE1 senses mechanical tension in DNA and helps resolve DNA bridges connecting separating daughter nuclei. ANKLE1 (green) localises to the midbody (red) during cell division. In cells ...

In just a few decades, DNA sequencing technologies evolved from slow, manual processes to rapid, automated ones, making ...