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Genetic Disorders By; Robin Doak. Introduction. A genetic disorder occurs when a person’s genes aren’t working properly. Genes contain instructions that tell the cells in your body how to grow. Down syndrome is a genetic disorder. Understanding Genetic Disorders.
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Introduction • A genetic disorder occurs when a person’s genes aren’t working properly. • Genes contain instructions that tell the cells in your body how to grow. • Down syndrome is a genetic disorder.
Understanding Genetic Disorders • Scientists have found more than 4,000 types of genetic disorders. • Heredity is the passing of genes from parent to child. • Some genetic disorders can cause infant death.
Learning more about genetic disorder • In the early 1900s, scientists began to understand heredity. • Smoking increases the chances of becoming ill. • If you inherited cancer from your parents doesn’t mean you will develop cancer.
Gene mapping • Human have forty-six chromosomes. • Scientists use gene mapping to find out more about genetic disorders. • In 1990, scientists started to map human DNA.
Common Genetic Disorders • Abnormal chromosomes cause genetic disorders. • The X chromosome helps determine which gender a person will be. • Females have two X chromosomes.
Mutated Gene Disorders • Marfansyndrome is caused by a single mutated gene on chromosome fifteen. • Some mutated genes cause hemophilia. • Hemophilia affects the blood’s ability to clot normally.
Sickle Cell Anemia • It causes hard, sticky, sickle-shaped blood cells. • Sickle cell anemia is painful and life threatening. • The disease is caused by an abnormal type of hemogoblin.
Cystic Fibrosis • With this disease people died young. • It disrupts the functions of several organs. • Americans with CF live to be thirty or older.
Treating and Preventing Genetic Disorders • Most genetic disorders are not curable. • Most common are blood infusions or medicines. • People suffering from hemophilia receive injections to help their blood cot.
Gene Therapy • Gene therapy is the adding or deleting of genes to cure genetic diseases. • Right now, scientists are doing clinical trials with gene therapy. • Most promising is its used to treat SCID.
Risks of Genetic Disorders • Tests can determine whether a baby has a genetic disorder. • Most women have blood tests and ultrasounds to make sure their baby is growing properly. Some women may undergo amniocentesis. • Health professionals called genetic counselors are specially trained to counsel parents about genetic disorders.