1. Cystic Fibrosis
Bryan Chua

2. What is it?
Cystic Fibrosis (CF) is an autosomal recessive genetic disorder that results from a frameshift mutation, which disrupts the normal function of the CFTR gene.
CFTR gene (Cystic Fibrosis Transmembrane Conductance Regulator): Responsible for moving ions out through the cell membrane.

3. 25% chance

4. Why is CFTR Important?
It is usually found active in the epithelial cells.
Important in lungs, stomach, liver, intestines etc.
Pumps sodium and chloride ions out into the exterior.
If it malfunctions, mucus will become thick and viscous, which is bad as it clogs up your digestive, respiratory, and in more severe cases, parts of the endocrine and reproductive systems.
Lung

5. Symptoms Usually diagnosed at birth. Later Diagnosis Salty skin
Can’t pass feces.
Chronic coughing, pneumonia, bronchitis.
Underweight.
Physically weak.
Later Diagnosis
Usually when people realize they are infertile.
Congenital absence of vas deferens, which is bad.

6. Systems Affected Respiratory Digestive
Thick mucus causes a person to be more vulnerable to lung infections.
People experience shortness of breath.
Bad for sports.
Other air passages clogged with mucus – can’t breathe.
Digestive
Newborns may experience abnormal bowel movement – can’t defecate.
Mucus blocks pancreatic enzymes from leaving the pancreas into the intestines – that’s bad for your pancreas.
Result: Poor digestive as there isn’t enough enzymes.

7. More problems Endocrine Reproductive
Since pancreas is damaged, it may produce insufficient insulin and that may lead to diabetes.
Cystic Fibrosis usually leads to many other health problems.
Reproductive
Almost all males with CF are infertile as they don’t have their vas deferens.

8. Life Expectancy Depends. A century ago, you won’t last if you had it.
Can’t digest, breathe, and maintain other bodily functions well.
Usually die while still an infant.
Rarely make it to adulthood.
Now
Modern medicine has greatly prolonged the life expectancy BUT it is still very low... mid 30s.

9. Dorothy Anderson: Named the Disease

10. Prevalence
Alot.
Autosomal recessive – many carriers in the population.
Modern medicine – increased the survival and therefore the allelic frequency of the disease.
Very common in Caucasian populations
1 in 31 Americans are carriers.
1/31 x 1/31 = 1/961 (estimate) – 0.001, 1 in Americans.
Real: affected / people.
Much Less Common in other races.

11. Treatment No cure. Transplants: lung, liver, pancreas etc.
For rich people. Buy a new lung, but CF will still return.
Gene Therapy (possible solution)
Viruses with CFTR gene act as vectors and pass the CFTR gene to epithelial cells.
Problem: Low rate of success, high cost.
Assorted Medications
Too many to list.
Usually to unclog mucus, make breathing easier, help digestion etc.
Insulin is also needed for many cases.

12. Works Cited
"About Cystic Fibrosis: FAQs." Cystic Fibrosis Foundation. N.p., n.d. Web. 03 June < "Cystic Fibrosis." PubMed Health. U.S. National Library of Medicine, 16 May Web. 03 June < "Cystic Fibrosis." Children's Hospital of Pittsburg. UPMC, n.d. Web. 03 June < "Cystic Fibrosis." Learn.Genetics. The University of Utah, n.d. Web. 03 June < disorders/whataregd/cf/index.html>.