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.

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.

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 ...

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 ...

NEW YORK — Close gatherings over the Thanksgiving holiday could cause an uptick in emergency room visits in New York due to a trio of respiratory illnesses that typically rise this time of year, as ...

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 ...

Experiments on an ultra-rare genetic mutation that causes neurodegeneration in children have helped uncover a new mechanism ...

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 ...

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 ...

For more than a decade, animal rescue centers in Central America have reported receiving a strangely high number of baby sloths with genetic mutations. Dr. Rebecca Cliffe was working on her Ph.D. near ...