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 ...

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 ...

In Mendelian inheritance patterns, you receive one version of a gene, called an allele, from each parent. These alleles can be dominant or recessive. Non-Mendelian genetics don’t completely follow ...

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 ...

Researchers conduct large-scale studies with diverse groups to better understand the genetic factors that influence health and disease. The Million Veteran Program (MVP), for example, includes people ...

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 ...

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.

Genetic testing identifies germline mutations, while genomic testing analyzes somatic mutations in tumors, influencing treatment options. Broader testing criteria are expanding access to genetic ...