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

Scientists have long known that inherited neurodegenerative disorders, including Alzheimer's, Parkinson's or motor neuron ...

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

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.

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 ...

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 ...

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