1. By Ana Moura-Cook

2. • Cystic Fibrosis is a disease of the
mucus glands that is inherited and
affects many body systems, including
the lungs and the pancreas.
• The disease is caused by mutations in
the CFTR gene. This gene affects the
movement of water in tissues, which
in turn affects whether the mucus will
be thin or thick.
• People with CF don’t have a good way
to predict how long they will live as it
greatly varies; however, mid-30’s is
X-Ray of someone with CF
the US average.

3. • The body produces thick and stickier
mucus, which can block airways and cause
lung damage.
• The lung damage includes scar tissue
(fibrosis) and cysts in the lungs.
• Digestive problems also occur because the
mucus blocks ducts in the pancreas.

4. • Dr. Fanconi wrote the earliest known paper documenting
the disease in the 1930’s.
• Shortly thereafter, Dr. Dorothy Anderson coined the name
for it.
• In the 1980’s the gene that mutated to cause CF was
discovered.
• In the 1990’s the first drug to target CF was approved
and used.
• Now, the life expectancy has multiplied by 6, from being
just 5 yrs in the 1950’s to 30 or more in 2005.

5. To inherit Cystic
Fibrosis, both of
your parents need
to be carriers of the
mutated gene.
Since having CF is
a recessive allele,
you must be
homozygous
recessive to inherit
CF.

6. Cystic Fibrosis is most
common in Caucasians.
• 1 person in 2,500-3,500
of the Caucasian
population in the US
inherits CF.
In other ethnicities, it is
much rarer.
• 1 in 17,000 African
Americans inherit CF.
• 1 in 31,000 Asian
Americans inherit CF.

7. • Coughing or wheezing
• Excessive mucus in the lungs
• Frequent lung infections (such as
pneumonia and bronchitis)
• Shortness of breath
• Salty-tasting skin
• Poor growth even with a big appetite

8. • Many states have newborn screening for CF now.
• If the newborn screening test comes up positive, it isn’t a diagnose,
but just a sign to have a follow-up.
• Follow-up test tests salinity of the sweat, as well as special tests with
blood or saliva. This test does give a diagnose.
• If they aren’t diagnosed by newborn screening, they are diagnosed
when the children are a little older and have begun to show
symptoms.

9. • Before treatments, CF was called the “fatal
disease of childhood”, because it was rare
for someone with CF to live into adulthood.
• However, with new treatments now, people
with CF can live well into adulthood.
• However, when they become older, men
with CF are almost always infertile,
because a canal in their reproductive
system is blocked by the mucus.

10. The blue shapes indicate the
people in the family that have
cystic fibrosis. The
grandfather, John James, had
cystic fibrosis, and one of his
daughters, Sarah, and one of
his sons, Michael, both got
CF. Of those two, between
them they had 3 children with
CF: Anne, Dina, and John.
The unaffected people in the
family have white symbols
because they didn’t express
the CF.

11. • Part of the regular treatment schedule that people living with
CF need to follow is creating strong coughs to help clear
mucus from airways.
• Also, people need to take nutrition and drug therapies.
• There are many approaches to managing CF. From drugs to
clear airways, to antibiotics, there is a vast range.
• A new breakthrough medicine is Kalydeco, which allows the
mutated protein to work at the surface of the cell, therefore
slightly curing the patient and thinning the mucus.
• Eating right and staying healthy also helps greatly in managing
CF.

12. • The Childhood Liver Disease and
Education Network (chiLDREN) is
a group that works on improving
lives and finding cures for many
diseases, including cystic fibrosis.
• The Cystic Fibrosis Research
Program is another group that
works on researching and finding
solutions for cystic fibrosis.
• There are many clinical trials
going on constantly from different
companies and participants who
have CF are always needed.

13. Gene therapy is the insertion of normal, functioning
cells into a body that lacks them, and having those
normal cells replace the mutated cells.
Pros of Gene Therapy Cons of Gene Therapy
• Could drastically change • Ethical questions and
the world of diseases, questions of moral values
including those that have • Chance that the body
to do with genetic rejects the cells
mutations, such as CF.
• Could be a cure to
hundreds of diseases.

14. • The Cystic Fibrosis Foundation (www.cff.org)
• CysticLife.com
• Reaching Out Foundation
(www.reachingoutfoundation.org)
In Massachusetts:
• MassGeneral Hospital
(http://www.massgeneral.org/children/services/treatmentp
rograms.aspx?id=1598)
• Also, CFF organizes walks and more locally for raising
money and awareness of CF.

15. Visit websites listed in my bibliography, especially cff.org
The Cystic Fibrosis Foundation is a comprehensive
resource that provides information and support, locally
and nationally. It is a great resource for anyone with CF.

16. • http://ghr.nlm.nih.gov/condition/cystic-fibrosis
• http://marchofdimes.com/baby/birthdefects_cysticfibrosis.html
• www.cff.org
• http://rarediseases.info.nih.gov/GARD/Condition/6233/Cystic_fibrosis.aspx/Panel
2#Resources
• http://www.aboutcysticfibrosis.com/cystic-fibrosis-history.htm
Images
• http://www.kincanada.ca/kinsmen-pages/en/content/17/Cystic-Fibrosis-Canada
• http://www.slh.wisc.edu/genetics/genetics-and-family-history.dot
• http://www.learningradiology.com/archives03/COW%20058-
Cystic%20fibrosis/cysticfibrosiscorrect.htm
• http://www.discern-genetics.org/discern_quality_criteria.php?q=1&g=5
• http://cysticfibro.org/children-cystic-fibrosis/
• http://cysticfibrosislifeexpectancy.net/can-cystic-fibrosis-be-cured/
• http://www.bioquicknews.com/node/652
• http://www.carinsurancecomparison.com/scientist-car-insurance-rates/
• http://jinesis.wordpress.com/2010/05/01/death-at-25-blogging-the-end-of-a-life/