genetic disorders

  • Albinism - results in a lack of skin pigmentation due to low or absent melanin production

  • Cystic Fibrosis - most common lethal genetic disorder in the U.S. It results in an over secretion of mucus that clogs the respiratory tract and can lead to fatal respiratory infections.

  • Galactosemia - results from an abnormality or lack of liver enzymes needed to transform galactose to glucose. Galactose accumulates in the blood and leads to mental defects

  • Phenylketonuria (PKU) - results from a lack of enzymes that transform the amino acid, phenylalanine to tyrosine. Phenylalanine accumulates in the blood and becomes neurotoxin. Special diets, content protein without phenylalanine, are required for individuals with this disorder. 

  • Sickle-Cell Disorder - results when a substitution of one amino acid occurs in the amino acid sequence of hemoglobin. This causes red blood cells to “sickle” thereby impairing oxygen transport in the blood. Most common in individuals of African descent.

  • Tay-Sachs Disease - results from a deficiency of a lysosomal enzyme that is needed to break down glycolipids (carbs) on the surface of nerve cells. The glycolipids clutter the nerve cell surface and interfere with nerve cell functioning. This causes nerve impulses to be slowed. Most common in individuals of eastern european orthodox jewish descent. 


Autosomal Dominant Disorders 

  • Achondroplasia - type of dwarfism that results due to defective cartilage and bone growth

  • Huntington's Disease - causes a buildup of lactic acid in the brain which typically affects areas of the brain controlling skeletal muscle contractions and can result in jerky, abrupt movements, stuttering dementia and even death.

  • Polydactyly - results in the development of extra digits on an individual's hands and feet. 

Sex linked disorder

  • Color Blindness - inability to see color, caused by an inactivation of some color receptors called cones which are located on the retina of the eye. 

  • Male Pattern Baldness - one type of early hair loss 

  • Hemophilia - blood disorder where individuals lack blood clotting mechanisms. It can be treated

  • Duchenne’s Muscular Dystrophy is the most common form of muscular dystrophy where an important protein in muscle tissue is absent. It leads to the destruction of muscle tissue starting in the limbs and moving upwards with medication. If untreated an individual could bleed out from a single cut.