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Cystic Fibrosis

Genetic Disease Science ProjectBy Katherine McKeon

katherine mcKeon

on 21 May 2009

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Transcript of Cystic Fibrosis

Cystic Fibrosis By Katherine McKeon
Core 3 Science
Cystic fibrosis is also called mucoviscidosis or CF
It's a hereditary disease that affects the pancreas,
respiratory system, and sweat glands
Decsription of Cystic fibrosis Is CF genetic or environmental? CF is genetic and not caused by the environment.
This disease is caused by a faulty gene called the CF transmembrane conductance regulator (CFTR gene)
To develop CF, a person must inherit 2 genes, one from the mother and one from the father. If a person only has one CF gene, they carry it but don't have any symptoms. Portion of the Population 8,000 people in the UK are affected
There are about 1 in 2,000 Caucasian newborns it affects
but it rarely affects Asians and African Americans. Probability There is a 1 in 4 chance of having a child with CF
2 in 4 chance of having a carrier child
1 in 4 chance of having an uanaffected child How it was discovered/History How is it diagnosed? Newborn screening:
-Genetic tests can tell if baby has
CFTR genes
-Blood tests can tell if the pancreas of a
baby is working
Sweat test:
-Doctor will confirm by doing this test
-They rub the skin with a sweat-producing
-High levels of salt confirm CF Symptoms Newborns:
-Blockage of intestines
-Failure to grow
-Frequent respiratory infections
-Many more
Children and young adults:
-Salty taste in skin (higher than normal
amounts of salt)
-Delayed growths
-Coughing or wheezing
-Enlargement of fingertips and toes
-Frequent chest and sinus infections
(pneumonia and bronchitis) Prevention There is no prevention because CF is a genetic disease that is inherited.
People can prevent it from getting worse:
-Don't smoke
-Eating nutritious, high calorie food
-Having regular check-ups
-Keeping immunizations current: flu shots and other shots that keep
immune system healthy Treatments There are treatments that aim to...
-Treat chest infections and prevent further damage to the lungs by taking regular antibiotics
-Improve nutrition by providing supplements that contain enzymes and help the digestive system Is a cure possible?

Current Research being done? Yes people are finding ways to
treat many of the symptoms of cystic
fibrosis such as coughing and making the
mucus in the lungs less sticky Long-term outloook---What are the coping skills? Counseling is offered to cope with the emotional and psychological problems with people who have CF or have a child with CF.
A good way to help a child cope with CF is for the parents to treat them like anyone else. Kids with cystic fibrosis play sports, go to school, and are socially active. Eventually, the kids may go to college, have jobs, and raise families. Encouraging a child with CF to be independent and self-reliant can help them live their lives to the fullest. It's been around since the Middle Ages
Guido Fanconi: First named the disease in 1936
Dr. Dorothy Hansine Anderson: Developed a complete profile
and description of the disease in 1949
1950s: In 1953, scientists noticed that patients with cystic fibrosis suffered
from excessive dehydration during a heat wave in NY. They discovered that the CF
patients had large amounts of salt in their sweat.
-This lead to the sweat test to diagnose cystic fibrosis
1980s: In 1989, a couple of scientists discovered and isolated the gene responsible for CF.
-The gene was credited to chromosome #7

Section 1 Section 2 Section 3 Section 4 Section 5 There is currently no cure for CF, but there is a lot of research going on to try
to find a cure through gene therapy or drug therapy to target the gene. It is the most common inherited disease
Full transcript