genetic disorders

Albinism

Lack of skin pigmentation due to low or absent melanin production.

Cystic Fibrosis

The most common lethal genetic disorder in the U.S., resulting in over secretion of mucus that clogs the respiratory tract.

Galactosemia

An abnormality or lack of liver enzymes needed to transform galactose to glucose, leading to accumulation of galactose in blood and mental defects.

Phenylketonuria (PKU)

Lack of enzymes to transform phenylalanine to tyrosine, leading to phenylalanine accumulation that becomes neurotoxin.

Sickle-Cell Disorder

A substitution of one amino acid in hemoglobin causes red blood cells to 'sickle,' impairing oxygen transport in the blood.

Tay-Sachs Disease

A deficiency of a lysosomal enzyme needed to break down glycolipids, causing interference with nerve cell functioning.

Achondroplasia

A type of dwarfism resulting from defective cartilage and bone growth.

Huntington's Disease

Causes a buildup of lactic acid in the brain, affecting muscle control and leading to movements, stuttering, and dementia.

Polydactyly

The development of extra digits on an individual's hands and feet.

Color Blindness

Inability to see color due to inactivation of color receptors called cones in the retina.

Male Pattern Baldness

A type of early hair loss.

Hemophilia

A blood disorder where individuals lack blood clotting mechanisms, which can be treated.

Duchenne’s Muscular Dystrophy

The most common form of muscular dystrophy, leading to destruction of muscle tissue due to absence of an important muscle protein.