Genetic Diseases

A genetic disease is caused by the abnormal expression of one of more sgenes. These conditions can be caused by a number of possible pathways: genetic mutation, abnormal chromosome number, incorrect gene sequencing, and defective genes. Currently there are about 4,000 known genetic disorders, with new ones discovered every year. The vast majorities of the disorders are quite rare, and affect only one out of several thousand or million people. Cystic fibrosis is the most common genetic disorder, with approximately 5 percent of the U.S. population carrying a copy of the defective gene.

Chronic Granulomatous Disease (CGD)

Chronic granulomatous disease is a diverse group of hereditary disease in which immune system cells have difficulty forming reactive oxygen compounds necessary to kill ingested pathogens. The incidence of chronic granulomatous disease is about 1 in a million.

Mucopolysaccaridoses

The mucopolysaccharidoses are a group of inherited diseases in which a defective or missing enzyme causes large amounts of complex sugar molecules to accumulate in harmful amounts in the body's cells and tissues. This accumulation causes permanent, progressive cellular damage that affects appearance, physical abilities, organ and system functioning, and, in most cases, mental development. Depending on the type of mucopolysaccharidosis, affected individuals may have normal intellect or may be profoundly retarded, may experience developmental delay, or have severe behavioral problems. Physical symptoms generally include coarse or rough facial features, thick lips, an enlarged mouth and tongue, short stature with a disproportionately short trunk (dwarfism), abnormal bone size or shape (and other skeletal irregularities), thickened skin, enlarged organs such as the liver or spleen, hernias, and excessive body hair growth. It is estimated that one in every 25,000 babies born in the United States will have some form of the mucopolysaccharidoses.

Phenylketonuria

Phenylketonuria is an inherited disorder of metabolism that can cause mental retardation if not treated. In PKU, the body can’t process a portion of the protein called phenylalanine (Phe), which is in almost all foods. If the Phe level gets too high, the brain can become damaged. All babies born in U.S. hospitals are now routinely tested for PKU soon after birth, making it easier to diagnose and treat them early. The incidence of this disease varies widely, but averages about one in every 15,000 births.

Turner’s Syndrome

Turner syndrome is a chromosomal condition that alters development in females. Women with this condition tend to be shorter than average and are usually unable to conceive a child (infertile) because of an absence of ovarian function. This occurs in one out of every 2500 female births.