Gene mutation

Huntington’s Disease

October 24, 2022Nervous Disorder

Huntington’s disease (HD) is a neurological condition. It is an inherited disease that results from a gene mutation. Toxic proteins collect in the brain and cause damage, leading to neurological symptoms.It has a wide-ranging impact, affecting movement, thinking, and mood. It attacks the brain, causing unsteady and uncontrollable movements (chorea) in the hands, feet and face. Symptoms get […]

Brittle Bone Disease

July 4, 2022Rare Diseases

Brittle bone disease is a genetic bone disorder that results in fragile bones that break easily. It is present at birth and usually develops in children who have a family history of the disease. The disease is often referred to as osteogenesis imperfecta (OI), which means “imperfectly formed bone.”Approximately one person in 20,000 will develop brittle […]