Cystic
Fibrosis is an inherited genetic disease effecting the lungs
and digestive system which results in severe breathing problems
for those diagnosed with the disorder. One in every twenty-five
thousand children is born with Cystic Fibrosis and one in twenty-five
is a carrier of the disease. It is caused by the mutation of
a gene called Cystic Fibrosis Transmembrane Conductance Regulator.
This gene leads to the production of a defective CFTR protein.
Cystic Fibrosis causes the body to produce abnormally thick
and sticky mucus which can lead to serious and frequent infections
in the lungs as well as severe breathing difficulties. These
chronic infections, over time can cause permanent damage to
the lungs. In the digestive track, the build-up of mucus makes
it extremely difficult for the body to absorb necessary proteins
and nutrients and the ducts of the pancreas become blocked,
impeding the progress of enzymes through the intestines where
they aid in the digestive.
There is no known cure for Cystic Fibrosis, though great strides
are being made and modern research has greatly extended the
life expectancy of children born with this debilitating illness.
In 1989, a Canadian scientist isolated the gene that causes
Cystic Fibrosis and now that the gene, along with over 1000
mutations, has been identified, there is renewed hope that a
cure will one day be found.
The
history of Cystic Fibrosis
•
Cystic Fibrosis was first identified in the 1930’s but
was often undiagnosed until after the child had died, usually
as a result of malnutrition and pneumonia.
• In the 1960’s scientists finally established
that Cystic Fibrosis was inherited through recessive genes.
• Both parents must be carriers of the disease in order
to pass it down to one of their children.
• There is a 25% chance that a child born to carries
of this gene will be born with Cystic Fibrosis, a 50% chance
that the child will be a carrier, and a 25% percent chance
that the child will not have Cystic Fibrosis nor be a carrier.
• 1989, the gene that causes Cystic Fibrosis was finally
isolated and cloned.
• Over 1000 mutations of the disease have since been
found.
