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 ...

A single sperm donor who carries a rare cancer-causing genetic mutation has fathered at least 197 children across 14 ...

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 ...

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 ...

Sickle cell diseases arises from hemoglobin protein mutations. The mutation causes red blood cells to form a sickle shape rather than a round one. One study suggests that this mutation could be ...

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 ...

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 ...

Researchers in a recent breakthrough have identified hidden enzyme mutation behind the cases of dementia, thereby leading to ...

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