Why do individuals carrying identical gene mutations for a disease end up having varying severity or symptoms of the disease?

A study identifies an unusually lengthy array of tandem repeats found only within the human version of a gene governing calcium transport in the brain

The researchers propose that these disease-causing mutations lead to a loss of function of the protein and that the gene IRF2BPL is required for proper neuronal function and maintenance

UNIGE researchers have identified the gene responsible for a recessive genetic disorder that causes degeneration of the eye and blindness

New technique detects mutations that affect large chunks of chromosomes in people with clonal hematopoiesis

Curated collection highlights research on facial development, birth defects, and natural variation

Recent discovery sheds light on how humans who live in close quarters with malaria-carrying mosquitos may evolve defenses against the disease

The specimen's exceptionally small stature and multiple skeletal abnormalities, including a cone-shaped skull, led to widespread speculation on its origin

A next step forward in disease prediction and prevention

Study tests treatment that worked in donated cells from patient