2. Definition
?How was it discovered
History
?How is it inherited
Symptoms
Effect
Treatment
Celebrities

3. Cystic fibrosis (CF) or
:-mucosviscidosis is
the most common life-.1
shortening genetic disease
2.caused by defects at a
certain locations in the
genetic makeup - a mutation
in what is called the CFTR
("Cystic Fibrosis Tran
membrane Conductance
).Regulator" gene

4. s .
los
d s to thus
lea and
ion ter ces
t
uta wa surfa es
e m and he bran d
Th alt of t em , an
s
of drati ouon s m s
ine
hy muc intest s
de he
t
of e lun er gs, organ
h oth
in t

5. Amiloride inhibits
"hyperactive" sodium
channels and prevents
the mucous
membranes from drying
out
Amiloride is a
potassium-sparing
diuretic used in the
management of hyper
tension and heart
failure

6. CystiC Fibrosis is a
reCessive disorder.
this means that in
order to develop the
Condition you need to
inherit two CystiC
Fibrosis alleles, one
From your mother and
one From your
Father. iF you inherit
only one CystiC
Fibrosis allele you
will be a Carrier and
you won’t show any

7. How was
this disease
?discovered

8. Usin
Mar g the m
cus o
of Mal use m
l, o
Dep the Cy physic del he
a i d
cert rtment stic Fib an scie evelop
ain r n e
"hy of Ped osis C tist an d, Dr.
airw p ia e d
incr ay c eractiv trics h nter at head
eas el e" as th
For
the s ed a ls are r sodium shown e
bs es c t
tudy .from orptio ponsib hanne hat
hype w hether , resear airw n of s le for ls i
r cher ay s alt a the n
amil active s inhibitin s tes urfa n
orid
e o d iu g th
e
ted ces d water
of th m
e air could im chann se
way e
surf prove h ls with
lung aces a ydratio
dam nd p n
age reve
nt

9. It was found that- •
in a mouse model,
amiloride
administered in the
first few days of life
prevents the typical
symptoms of cystic
fibrosis and the
development of
chronic lung
.disease

10. However, the treatment-
brought no improvement
if the symptoms were
already present

11. Chronic lung damage apparently
prevents the amiloride from being
.effective
This indicates that the lung"
damage caused by the disease may
.be irreversible", stated Dr. Mall
With amiloride, preventative therapy"
of cystic fibrosis that attacks the
basic defect directly could be
.possible for the first time
But the children affected
would have to be identified
at a very early stage", said
.Dr. Mall

13. ?How is Cystic Fibrosis inherited
Cystic Fibrosis is caused by a defect in
the CFTR gene. The CFTR gene produces
a certain protein that controls salt and
water movement in your cells. In people
who do not have cystic fibrosis, mucous
is watery, but people who have cystic
fibrosis have thick, sticky mucous and
.extremely salty sweat

16. Albert Einstein Christopher Davies Laura Rothenberg
Lisa Bentley Bob Flanagan Gregory Lemarchal