Genetic Disorders

Diseases

What is a Genetic Disorder or Disease?

• A genetic disorder is an abnormal condition that a person inherits through genes or chromosomes.

• They are caused by mutations or changes in a person’s DNA.

Cystic Fibrosis

• Cystic fibrosis is a genetic disorder in which the body produces thick mucus in the lungs and intestines.

• The mutation that leads to cystic fibrosis is carried on a recessive allele.

• There is currently no cure for cystic fibrosis.

Sickle-Cell Disease

• Sickle-cell disease is a genetic disorder that affects the blood.

• Red blood cells will have an unusual sickle shape.

• People will experience pain and weakness.• There is no cure for sickle-cell disease.

Hemophilia

• Hemophilia is a genetic disorder in which a person’s blood clots very slowly or not at all.

• A person with hemophilia can bleed to death from a small cut or scrape.

• It is caused by a recessive allele on the X chromosome.

• People with hemophilia are advised to avoid contact sports because of internal bleeding.

Diagnosing Genetic disorders

• Today doctors use tools such as amniocentesis and karyotypes to help detect genetic disorders.

• Amniocentesis – a doctor uses a needle to remove fluid surrounding a baby.

• Karyotypes – a picture of all the chromosomes in a cell.

Gene Therapy

• Researchers using genetic engineering will try to correct some genetic disorders.

• Researchers will insert working copies of a gene directly into the cells of a person with a genetic disorder.

• Gene therapy is still experimental and researchers are working to improve this technique.