Genetic Disorders Section 5.5

Genetic Disorders Learning Goal: To learn about genetic disorders. Success Criteria: explain what causes genetic disorders explain that genetic screening is used to detect the presence of a mutated gene identify some human genetic disorders and explain how they are inherited

Genetic Disorders Cont’d… some disorders are caused by genetic mutations mutation: a change in the genetic code of an allele; change may have positive effect, negative effect, or no effect

Genetic Disorders Cont’d… genetic screening: tests used to identify presence of a defective allele that leads to genetic disorder

Genetic Disorders many human disorders have a genetic component, but onset of disorder may vary depending on life conditions some disorders can be detected at birth, while others do not manifest themselves until individual has reached certain age range some disorders can be treated and managed, while others lead to debilitating symptoms and premature death

Cystic Fibrosis Cystic fibrosis (CF) is the most common fatal genetic disease in Canada. life expectancy for individuals with CF is less than 40

Cystic Fibrosis Cause: a mutated CFTR gene on chromosome 7

Cystic Fibrosis Mechanism of Inheritance: recessive allele

Cystic Fibrosis Symptoms: body produces thick, sticky mucus that clogs the lungs, leads to infections, and blocks the release of enzymes from the pancreas that produces digestive enzymes

Cystic Fibrosis Treatments: take a large number of replacement enzymes daily physical therapy or other treatments every day to help loosen accumulated mucus in the lungs

Genetic Disorders Learning Goal: To learn about genetic disorders. Success Criteria: explain what causes genetic disorders explain that genetic screening is used to detect the presence of a mutated gene identify some human genetic disorders and explain how they are inherited

Homework Use the Internet and other resources to find stories about people who have cystic fibrosis. Make a list of strategies that individuals with CF use to manage their condition. Research and record the ways each person’s strategy helps him or her, as stated by that individual. What similarities do the strategies share? Think about how each person’s strategies would fit into your daily life, if you had CF. Describe in paragraph form how your daily schedule would change. Do you think some CF strategies could fi t easily into your own lifestyle? What changes would you have to make? What would stay the same? Cystic fibrosis is a genetic condition that can be managed by a variety of therapies and lifestyles. In the past people with CF barely lived past childhood. Today, with treatment and healthy lifestyle choices, many people with CF live well into adulthood. They can go to school, pursue careers, play sports, and have families. Some individuals with CF even live to be senior citizens. With advances in genetics, it is quite reasonable to think that a child born with CF today may live to see a cure for the disorder.