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.

Worldwide, only a handful of patients are known to suffer from episodic ataxia type 6, a neurological disease that causes transient loss of muscle control. The cause lies in a mutation that changes a ...

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 ...

It’s well established that some cases of amyotrophic lateral sclerosis (ALS) are caused by mutations that are inherited from a person’s parents — but a new study shows some cases of sporadic ALS may ...

A team of scientists led by Prof. Patrik Verstreken (VIB-KU Leuven) has identified a new genetic mutation that may cause a form of early-onset Parkinsonism. The mutation, located in a gene called ...

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 from the Neuromuscular Diseases Group and the Dementia Neurobiology Group of the Sant Pau Research Institute (IR Sant Pau) and the Memory Unit of the Sant Pau Hospital, led by neurologist ...

Learn how MTHFR mutations are linked to migraine with aura and why the science on treatments like methylfolate remains mixed.