Sickle cell disease is caused by a single genetic mutation that alters the shape of red blood cells. While the condition ...

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.

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 ...

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

Cell signaling is crucial for cells to communicate and function correctly. Disruptions in these pathways, caused by genetic mutations or environmental factors, can lead to uncontrolled cell growth, ...

Researchers at City of Hope have found that cell mutations are necessary but not always sufficient for tumors to form. Instead, they suggest that additional risk factors that promote tumor growth, ...

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 ...

Although the genetic cause of many diseases have been identified, it’s estimated that as many as 70% of patients with a rare disorder do not know what causes their disease. Millions of people live ...

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

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 ...