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

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

Gene therapy has the potential to dramatically benefit patients with genetic blood disorders, but a small study on participants in a clinical trial for sickle cell disease suggests that a key process ...

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

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 ...

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 ...

New research provides a mechanistic map of how genetic mutations disrupt RNA splicing in acute myeloid leukemia.

Scientists have traced a devastating pattern of brain cell loss in a handful of families to a single, ultra-rare mutation that sabotages one of the brain’s key protective enzymes. The discovery not ...