What do we know about heredity and Huntington's disease? Huntington's disease (HD) is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline. In the United States alone, about 30,000 people have HD. In...

Description Sickle cell disease is a group of disorders that affects hemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body. People with this disease have atypical hemoglobin molecules called hemoglobin S, which can distort red...

Normal Function The HBB gene provides instructions for making a protein called beta-globin. Beta-globin is a component (subunit) of a larger protein called hemoglobin, which is located inside red blood cells. In adults, hemoglobin normally consists of four protein...

Description Congenital nephrotic syndrome is a kidney condition that begins in infancy and typically leads to irreversible kidney failure (end-stage renal disease) by early childhood. Children with congenital nephrotic syndrome begin to have symptoms of the condition...

Description Kawasaki disease is a sudden and time-limited (acute) illness that affects infants and young children. Affected children develop a prolonged fever lasting several days, a skin rash, and swollen lymph nodes in the neck (cervical lymphadenopathy). They also...