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 have discovered a surprising mechanism by which the inherited genetic mutation known to cause Huntington's disease leads to the death of brain cells. The findings change the understanding ...

Researchers have identified how a single mutation in the GPX4 enzyme causes neurons to undergo ferroptosis, leading to severe early-onset dementia.

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 ...

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 team of researchers at the Icahn School of Medicine at Mount Sinai has uncovered why children with the same ...

For years, researchers have watched the tiny power plants inside brain cells falter in Parkinson’s disease and wondered what ...

Scientists have discovered how a mitochondrial mutation rewires immune function in a model of inherited primary mitochondrial ...

Researchers have identified specific genes containing rare mutations that significantly increase the likelihood of developing ...

Deep inside your nervous system, a tiny fault in how cells make energy can quietly change the course of a life. That hidden ...

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 ...