2. Genetic disorders are caused by an abnormality in an individual’s
DNA sequence. This can be because of a mutation in one gene,
mutations in multiple genes, or mutations and environmental
causes. They are inherited (passed down from the parent to
child) and are called hereditary mutations. Hereditary mutations
are carried in the DNA of the reproductive cells. When the
reproductive cells combine to produce offspring, the mutation
will virtually be in all of the cells of the offspring’s body.
3.
4. Level 1- Single-Gene Disorders:
These disorders are the result of a single gene being altered or
missing.
Level 2- Chromosome Abnormalities:
These disorders are the result of entire chromosomes or large
segments duplicated, altered or missing.
Level 3- Multifactorial Disorders:
These disorders are the result of mutations in multiple genes and
also environmental causes.
5. Cystic fibrosis (CF) is a single gene genetic disorder that affects
the respiratory and digestive system. Individuals with cystic
fibrosis have inherited a defective gene called CFTR (cystic
fibrosis transmembrane conductance regulator). This gene
normally produces a protein that helps sodium in and out of
cells.
Cystic Fibrosis is a recessive disorder, which mean both parents
must pass on the gene for their offspring to get the disorder.
If only one parent passes on the gene and the other does not, the
child will not have the disorder but will be a carrier of the gene. 1
in 25 Canadians carry the gene.
6. Cystic fibrosis affects children and young
adults. The disease mainly affects the lungs
and the digestive system. A protein
Produced in the CFTR gene does not work
properly and causes mucus to build up
outside of the cell. It effects the lungs the
most, due to the thick mucus it causes
difficulty breathing. It also makes it
difficult to clear bacteria causing infection.
Mucus builds up in the digestive system as
well, making it difficult to absorb nutrients.
7. Many cases were misdiagnosed as whooping cough, chronic
bronchitis or pneumonia.
CF became more well known in the 1700’s due to the German
expression “A child whose forehead tastes like salt when kissed
will soon die.”
Throughout the decades:
1930’s- said to be first discovered, thought to be a Vitamin A deficiency.
1940’s- doctors Sidney Farber and Harry Shwachman noticed the secretion
of mucus.
1950’s- used a sweat test to help diagnose CF.
1960’s- organized research for CF began.
1970’s- advocated high-fat diets.
1980’s- found more ways to help treat the disease.
1990’s- gene replacement therapies began to help treat.
2000’s- research continues for a cure. Life expectancy for an individual with
CF is around 40.
8. Difficulty breathing
Rattling cough that expels mucus
Lung infections
Unable to gain weight
Difficulty digesting
Salty tasting skin
9. Medications
Medications are used to treat lung disease
Many are inhaled using a nebulizer
Medications used are:
Mucolytics, which loosen lung mucus
Bronchodilators, which expand the airways
Steroids, which decrease inflammation
Antibiotics, fight infections
Chest physical therapy
Considered standard therapy
Used to clear mucus from the lungs
Person is clapped on the back
10. Nutrition
Good nutrition
High-calorie diet
Vitamins
Pancreatic enzymes
Pancreatic enzyme supplements, taken with everything consumed, help
absorb nutrients
Transplantation
Transplants are used for end-stage disease.
The transplants used are:
Double-lung transplant
Heart-lung
Liver
11. Gene therapy is an experimental technique that uses genes to
treat diseases.
Gene therapy can replace a mutated gene or inactivating a
mutated gene.
It is promising but risky. It needs more research to see if it is safe.
Gene therapy has been used for cystic fibrosis, in which the
healthy CFTR gene is inserted into the lung cells
