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Transcript of Cystic Fibrosis
The gene causing CF is found on the long arm of chromosome 7.
Chromosome 7 encodes a protein called the cystic fibrosis transmembrane conductance regulator (CFTR).
CFTR serves as an important function in creating sweat, mucus, and digestive juices by controlling the movement of salt and water in and out of the body's cells. Obstacle 1 Obstacle 2 Obstacle 3 Goal Start What is Cystic Fibrosis? Any Questions?? Pauline Acedera
5B Cystic Fibrosis Cystic fibrosis is a hereditary disease characterized by thick, sticky mucus that builds up in the lungs, digestive tract, and other areas of the body. It is one of the most common chronic lung diseases in children and young adults. It is a life-threatening disorder. What genetic abnormality leads to this disorder? Ethical, Legal, and Social Issues
on Genetic Testing What genetic abnormalities lead to this disorder? (cont.) Cystic fibrosis is a hereditary disease in which a person can only get it if his or her parents are both carriers of the recessive allele.
A child must inherit two copies of the defective gene in order to have CF.
A child with two parents who are carriers of the defective gene has a 25% chance of having cystic fibrosis and being a carrier of two defective copies of the gene,
25% chance of not being affected nor a carrier of a defective copy of the gene,
and a 50% chance of not being affected by CF but carrying one defective copy of the gene. What are the effects of cystic fibrosis? Prevalence
Cystic Fibrosis Can Cystic Fibrosis
How? Other relevant
information... The effects of Cystic Fibrosis... It occurs equally in male and female babies and affects nearly every race.
2nd most common life-shortening, genetically inherited disease in the U.S. after sickle cell anemia.
There are an estimated 1,000 new cases diagnosed each year.
The overall birth prevalence of CF in the United States is 1 in 3,700.
Cystic fibrosis occurs most commonly among Caucasians of Northern European descent
An estimated 1 in 2,500 Caucasian births are affected.
Less common in other ethnic groups, affecting about 1 in 17,000 African Americans and 1 in 31,000 Asian Americans. Yes, Cystic Fibrosis can be treated, although currently there is no cure. Chest physical therapy - the patient is repeatedly clapped on the back to free up mucus in the chest.
Inhaled antibiotics to kill the bacteria that cause lung infections.
Bronchodilators (also used by people with asthma) that help keep the airways open.
Pancreatic enzyme replacement therapy to allow proper food digestion.
Gene therapy (a treatment currently in clinical trials), in which the healthy CFTR gene is inserted into the lung cells of a patient to correct the defective gene. Goals of
Cystic Fibrosis Treatments Prevent and control lung infections.
Loosen and remove thick, sticky mucus from the lungs.
Prevent or treat blockages in the intestines.
Provide enough nutrition.
Prevent dehydration. Symptoms salty-tasting skin
wheezing or shortness of breath
persistent cough and excessive mucus
frequent lung infections, such as pneumonia and bronchitis
frequent sinus infections (sinusitis)
growths in the nose (nasal polyps)
poor weight gain and growth
foul-smelling, greasy stools
swollen belly, accompanied by abdominal gas and discomfort
broadening of the fingertips and toes
fatigue The defective gene obstructs the ability of the body to transfer water and salt to and from cells.
Secretions in healthy people are normally thin and watery.
Secretions in people with CF become very thick and sticky, which clog up organs and causes them to not function properly. Effects of CF on Organs:
Lungs Airways become blocked.
Bacteria grow in mucus collections, causing lung infection. Effects of CF on Organs:
Pancreas Pancreatic ducts are clogged.
Enzymes cannot pass through the obstruction, causing improper digestion and inability of the body to absorb nutrients.
Damages insulin-producing cells (can lead to insulin-dependent diabetes). Effects of CF on Organs:
Liver and Gallbladder Secretions clog up the bile ducts and gallbladder.
Over a long period of time, could permanently damage the liver and gallbladder is usually removed. Effects of CF on Organs:
Intestine First organ to be affected.
Blockage of the intestines, called meconium ileus. Effects of CF on Organs:
Reproductive Organs Men- thick secretion block the sperm canal, causing infertility.
Women- may have decreased fertility due to thick cervical mucus blocking the entry of sperm. Life Expectancy Most children with CF are healthy until they reach adulthood.
They are able to participate in most activities and should be able to attend school.
Lung disease eventually worsens to the point where the person is disabled.
Today, the average life span of people that have CF who live to adulthood is approximately 37 years.
Death is usually caused by lung complications. Prenatal
Genetic Testing Amniocentesis Can be tested as early as 11 weeks.
Doctor inserts a needle in the abdominal wall into the uterus to obtain amniotic fluid around the baby.
Ultrasound is used to guide the needle away from the baby and placenta.
The fluid is then tested to see if both the baby's CFTR genes are normal. Chorionic Villus Biopsy A small needle/catheter is placed either through the vagina and cervix into the uterus.
collect villi or a tiny piece of placenta to biopsy.
Ultrasound is used to guide the needle/catheter away from the baby and placenta.
The cells of the placenta are then tested to see if the baby has CF.
Genetic testing can begin as early as 8 weeks. Potential Risks
Amniocentesis Invasive diagnostic procedure
1-2% miscarriage rate (may vary due to practitioner experience levels) Potential Risks
Chorionic Villus Biopsy Invasive diagnostic procedure
3-5% miscarriage rate (may vary due to practitioner experience levels) Other Screening Tests Sweat Chloride Test Non-invasive, painless test.
Measures the concentration of salt in a person's sweat.
Doctor rubs a small amount of a chemical called pilocarpine on the arm or leg.
Attach an electrode to this spot. Electrode provides a small electric current that produces sweat. Cystic Fibrosis DNA Mutation Analysis a genetic test that uses blood or a swab from the inner cheek. Cystic Fibrosis Newborn Screening Test Checks for a chemical made by the pancreas, called immunoreactive trypsinogen, or IRT, normally found in small amounts of the body.
IRT level is high in people who have CF.
Is done during the first few days of the baby's life in the hospital.
A few drops of blood from a heel prick are placed on a special card called a Guthrie card.
It is mailed to a special state laboratory where the blood is tested. In what situations should parents be required to have genetic tests performed? Do health insurance companies have a right to view the results of any genetic testing? Why or why not? In what situations should parents be required to have genetic tests performed? Should parents be banned from genetically testing their baby? What are the advantages and disadvantages of parents knowing before birth or at birth that their child has a serious disorder? Do health insurance companies have a right to view the results of any testing?
Why or why not? Disadvantages:
Parents may terminate the pregnancy resulting to disappointment of a lost fetus or infant.
Parents may become reluctant to have children, knowing the possibility of having another child with a serious disorder.
I feel that today's society hungers to be physically perfect, so knowing that the baby would have a genetic disorder would cause the parents to want to get rid of the baby through abortion. Parents should not be banned from having their babies genetically tested.
They should have their own choice whether or not they want to have their baby genetically tested.
It is the parents' right to determine whether their fetus is affected with a severe disorder, so that they can make important decisions about the pregnancy.
Personally, I am not an advocate of terminating a fetus due to a disorder, unless of course if this may impose a threat to the life of the mother. In my opinion, I don't think parents should be required to have genetic tests.
Having genetic tests should be a free choice, not a requirement. In my opinion, since CF is a hereditary disease, it is important to have a genetic test on those individuals who are related by blood to someone with CF because it is possible that this person can carry the gene.
If this person is a carrier, then they can make important decisions as far as thinking about having children or choosing to use a donor egg or sperm to avoid pregnancy. Advantages:
Parents would be emotionally ready to accept the fact that they will have an infant with a serious disorder,
Parents can ask for help and educate themselves about the disease,
At an early stage parents will learn how to care for the affected child. Health insurance companies do not have a right to view the results of any genetic testing.
The Genetic Information Nondiscrimination Act of 2008 (GINA) is a federal law that protects individuals from genetic discrimination in health insurance and employment.
GINA makes it against the law for health insurers to request, require, or use genetic information to involve decisions about:
A person's eligibility for health insurance,
And a person's health insurance premium, contribution amounts, or coverage terms. Sites
8. http://cff.org/AboutCF/Testing/NewbornScreening?UnderstandingtheResults In any circumstances, privacy
and confidentiality of an individual with
Cystic Fibrosis must always be maintained because genetic results are directly related to the person's identity.