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 ...

Medically reviewed by Brigid Dwyer, MD Key Takeaways Huntington’s disease is a genetic condition that is inherited in an autosomal dominant pattern.The genetic change that causes Huntington’s disease ...

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 ...

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 ...

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 ...

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, ...

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 ...

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 ...