Biology, Period 8Cystic Fibrosis is a genetic disease that is simple recessive. Thismeans that a child must have two abnormal copies of the gene, one from themother and one from the father, to have cystic fibrosis. If both parentscarry one abnormal copy of the gene, each child has a twenty-five percentchance of inheriting the disease. About thirty thousand children andadults have the disease, and one in every thirty-one Americans carries theabnormal gene.
In the nineteen fifties, children with cystic fibrosis diedin their early childhood, but today they are expected to live to theirthirties due to medical treatment. Cystic fibrosis is a chronic, progressive condition that affects thedigestive and respiratory systems. The gene defect causes the body toproduce abnormally thick mucus. The mucus clogs the lungs and leads tolung and sinus infections and difficulty breathing. The thick mucus alsoobstructs the ducts of the pancreas, which prevents digestive enzymes fromreaching the intestines.
Those with cystic fibrosis are unable to absorbmuch of the nutrients from food, so they have poor weight gain. Cysticfibrosis also makes the body produce a high amount of sodium and chloridein the sweat. This gives a very salty taste to the skin. The disease alsocauses reduced oxygen in the blood.
People with cystic fibrosis can have abarrel shaped chest due to difficulty breathing. People can find out if they have cystic fibrosis by taking a sweattest. It is a simple and painless process that measures the amount of saltin the sweat. High amounts of salt in the sweat could mean that person hascystic fibrosis. Patients can treat cystic fibrosis by cleaning mucus fromthe lungs everyday. Chest physical therapy is used to dislodge mucus fromthe lungs.
There are also many drugs available to treat lung infection. There is even a drug that can thin out the mucus produced in the lungs. Much research has been done to improve the lives of people withcystic fibrosis. Especially after scientists discovered the cysticfibrosis gene in 1989. Gene therapy, using normal genes to replacedefective ones, has been the main focus of research. Trials have shownthat the normal gene can be transferred into the cystic fibrosis airways,but not efficiently enough to be used.
Some ways to insert genes that arestill being tested are nasal drops, and compressing the DNA and hoping thatit will enter the nucleus of cells. Progress in gene therapy is stillcontinuing, but scientists are using their knowledge to develop othertreatments. The main goal of the Cystic Fibrosis Foundation is to find a cure forthe disease. They perform clinical trials to test out new treatments.
They also have research programs in top universities to increase awarenessof cystic fibrosis. Duchenne Muscular dystrophy is a sex-linked disorder. It only occursin males, and symptoms are not seen until the boy is about ten years old. There is no way to detect Duchenne muscular dystrophy before birth. Thesymptoms of this disease include muscle weakening, especially in the limbs,and heart problems. It can be treated by physical therapy to reduce muscletightening.
Also, the boy may be put in a wheel chair if he cannot use hislegs, and there are many support groups for children with musculardystrophy. The main goal of the Muscular dystrophy association is toresearch to find a cure, especially because it is a fatal disease.
