If an athlete can raise their population of red blood cells by a few percentage points, that represents a huge competitive ...

Emily Kramer-Golinkoff can’t get enough oxygen with each breath. Advanced cystic fibrosis makes even simple things like walking or showering arduous and exhausting. She has the most common fatal ...

Mutations are changes in the molecular 'letters' that make up the DNA code, the blueprint for all living cells. Some of these changes can have little effect, but others can lead to diseases, including ...

It took a while for the science to basically catch up to that suspicion.” In these types of “recessive” conditions, the ...

Investigators have unveiled for the first time that changes in certain genes affect an aggressive cancer, T-cell acute lymphoblastic leukemia (T-ALL), differently depending on genetic ancestry. The ...

Mutations in the MAGEL2 gene, which cause Schaaf-Yan syndrome (SYS) —an ultra-rare disease that affects neuronal and cognitive development— generate truncated, non-functional proteins that tend to ...

Rare genetic traits are features that are uncommon within the general population. They can lead to different observable features or to rare physical abilities. Rare genetic traits are typically ...

A new study headed by teams at the Wellcome Sanger Institute, EMBL’s European Bioinformatics Institute (EMBL-EBI), and Open Targets has indicated how mutations that cause cancer drug resistance fall ...

Most research in human genetics has historically focused on people of European ancestries—a long-standing bias that may limit the accuracy of scientific predictions for people from other populations.

Many scientific discoveries are serendipitous—the result of chance. Seeing evolution in action in a cheese cave turned out to be exactly that for Benjamin Wolfe, associate professor of biology, and ...

Tuberculosis is a confounding scourge. It's the leading cause of death from infectious disease in the world, and yet it's estimated that those deaths represent perhaps 5% of infections with ...