For more than a century, Mendelian genetics has shaped how we think about inheritance: one gene, one trait. It is a model that still echoes through textbooks—and one that is increasingly reaching its ...

DNA is the chemical that codes for proteins which determine our physical traits. This molecule is a double coil connected by cross pieces (called bases). There are four bases that can vary in sequence ...

In 2018, Dr. Claudia Gonzaga-Jáuregui, who years before had completed her doctorate studies in Dr. James R. Lupski's lab at Baylor College of Medicine, received an email from an editor at Elsevier's ...

For many patients and caregivers with neurological diseases, receiving a diagnosis often triggers a complex series of emotions. And while it’s an answer that helps provide clarity, it’s not always the ...

At the new UAEU Genomics Laboratory for research and diagnosis of rare genetic diseases, Fatma Al Jasmi works to improve diagnosis, prevention and treatment of genetic diseases for Emirati families.

When the Human Genome Project concluded 21 years ago, it opened the door for genetic testing and a promise for lifesaving screenings and personalized medicine. An innovation that serves as a key ...

As a teenager just moved to Iowa from war-ravaged Germany in 1951, John M. Opitz, M.D., wanted to study developmental biology, but his “very Prussian” mother insisted he go to medical school instead.