Six-year-old Cooper Wood was diagnosed with Duchenne muscular dystrophy earlier this year. When his parents applied for a one ...

Commonly recognized as the "breast cancer gene," doctors are recommending men consider screening for the BRCA gene mutation to assess risk of other cancers.

The type 1 ryanodine receptor (RyR1) is an important calcium release channel in skeletal muscles essential for muscle ...

In the complex landscape of mental health research, a new viewpoint review sheds light on an underexplored genetic player: ...

The turquoise frog in Victor Berthelsdorf’s pond may look pretty, but for local turtles, bugs and other animals, it is ...

Illuminating the experience of people living with sickle cell could improve patients’ lives and enhance all of medicine ...

Genetic analysis of a bird flu virus detected in a person in Missouri who didn’t previously have contact with animals offers ...

Most major blood groups were identified early in the 20th century. Many discovered since, like the Er blood system first ...

When you stare into your dog's adorable puppy eyes, it's doing a lot more than just tugging at your heartstrings, it's ...

Gene mutations associated with non-small cell lung cancer include EGFR, HER2, and more. Lung cancer mutations can determine your options for testing and treatment. Genes are the instructions that ...

Genetic disorders can occur due to mutations in one gene (monogenic), multiple genes (multifactorial inheritance), and mutation in one or more chromosomes. Point mutations are where one nucleotide ...

Though autosomal dominant polycystic kidney disease (PKD) is typically an inheritable disorder, some patients do not have a ...