Scientists at the Broad Institute of MIT and Harvard, Harvard Medical School, and McLean Hospital have discovered a ...

Sickle cell disease is caused by a single genetic mutation that alters the shape of red blood cells. While the condition causes severe pain and health complications, carriers gain resistance to ...

Sickle cell disease is a hereditary condition, which means a person inherits it from their biological parents. The condition occurs when a person inherits two copies of the hemoglobin beta (HBB) gene ...

Scientists have identified mutations in the CPD gene as a key cause of a rare congenital hearing loss, revealing how disruptions in arginine and nitric oxide signaling damage sensory cells in the ear.

Researchers have identified a mechanism which can explain aspects of neurodegeneration which have baffled scientists for ...

A study entitled "IER3IP1-mutations cause microcephaly by selective inhibition of ER-Golgi transport", now published in the open access journal "Cellular and Molecular Life Sciences", provides new ...

A study suggests overactive VCP may contribute to ALS nerve damage by disrupting nuclear pore proteins in genetic ALS.

UCSF Benioff Children’s Hospital Oakland is enrolling patients in an innovative clinical trial that seeks to cure sickle cell disease. The trial is the first in the U.S. to apply non-viral CRISPR-Cas9 ...

Duke-NUS and NUHS scientists uncover a complex web of genetic, age-related and microbial factors that increase the risk of stomach cancer.Age-related blood cell mutations may trigger early changes in ...

A new study suggests a gene mutation could have a protective effect against Alzheimer's. The research looked specifically at blood stem cells, which live in the bone marrow and make different types of ...