A newly identified and rare genetic variant slows the growth of mutated blood stem cells and reduces the risk of leukemia.

A newly identified and rare genetic variant slows the growth of mutated blood stem cells, researchers report, and it reduces the risk of leukemia.

Experiments on an ultra-rare genetic mutation that causes neurodegeneration in children have helped uncover a new mechanism ...

A vanishingly rare genetic glitch in a single enzyme can erase a newborn’s brain cells in a matter of weeks, leaving doctors ...

Rare inherited genetic variants significantly increase familial lung cancer risk, offering new targets for early detection.

A new study by UCLA scientists adds to the understanding of the genetic architecture of schizophrenia. Past research has shown the impact of commonly occurring genetic variants on a person's risk of ...

Tatiana Schlossberg, the youngest granddaughter of President John F. Kennedy, recently revealed she was diagnosed with terminal acute myeloid leukemia (AML) due to a rare genetic anomaly. In a ...

Recent advances in DNA sequencing, combined with new stem cell research approaches, have allowed an international group of scientists to identify a previously unrecognized form of diabetes that ...

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 ...

The parents of 7-week-old Dhruvan Gopi were warned he might not survive the night as specialists converged around his crib at ...

A man sits outside and holds a slim menthol cigarette between his fingers. Close-up with focus on the cigarette. The study provided a comprehensive examination of how lifestyle and environmental ...