Sickle cell disease (SCD) is a group of hereditary red blood cell disorders. Sickle cell anemia is a type of SCD that occurs when a person inherits genes containing an atypical form of hemoglobin.

An international research team reveals new molecular mechanisms associated with pathogenic mutations in the protein ...

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.

All people have two copies of every gene – one copy inherited from each parent. The NF1 gene mutation is dominant, which means that only one of the two copies of the gene needs to have the mutation to ...

Google DeepMind has wielded its revolutionary protein-structure-prediction AI in the hunt for genetic mutations that cause disease. A new tool based on the AlphaFold network can accurately predict ...

Google DeepMind has wielded its revolutionary protein-structure-prediction AI in the hunt for genetic mutations that cause disease. A new tool based on the AlphaFold network can accurately predict ...

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 ...

CALIFORNIA — Close gatherings over the Thanksgiving holiday could cause an uptick in emergency room visits in California due to a trio of respiratory illnesses including a new mutation of the common ...