Cystic Fibrosis

Cystic fibrosis (CF) is the most common lethal autosomal recessive disease affecting Canadians (2). CF can affect multiple organs; however, the most fatal symptoms occur in the lung. As of 2013, the median age of survival for CF is roughly 50 years old with treatment (3). However, patient life-span decreases dramatically when treatment options such as antibiotics and enzymes are not administered, and nutritional changes or lung transplants are not made (3). Currently, there is no cure for CF, although current treatments can improve patient outcome.

Gene therapy has saved many lives but there also have been other cases where the treatment has not helped cure the patient’s genetic disorder and they have died. Take Jesse Gelsinger for an example. He suffered from an X linked genetic disorder of the liver so he was injected with an adenoviral vector carrying the corrected form of the gene (Couzin & Kaiser, 2005). This treatment was not a success and Jesse ended up dying four days later. He suffered from a massive immune response that was triggered by the use of the adenoviral vector that was injected in him to transport the correct gene into his cells, which caused him to have multiple organ failures and his brain to die.

to a patient of cystic fibrosis. Scientists have always been daunted by this fatal genetic disease

Cystic fibrosis (CF) is a lethal autosomal recessive disorder with a clinical incidence of 1 in every 3500 newborns1. Currently, over 4000 Canadians have CF, with 60% being adults2. In the past, CF was considered a fatal disease with a life expectancy of less than two years, however, advances in enzymatic and antibiotic therapy have greatly improved the life expectancy of patients afflicted with CF3. Currently, the median age of Canadian CF patients is 50 years2.

Cystic fibrosis (CF) is an inherited autosomal recessive disorder that affects the lungs and digestive system most often. In the United States some 30,000 children and adults have CF. There are approximately 1,000 new cases of cystic fibrosis diagnosed each year in the US with 70% of patients diagnosed with CF by the age of two, 40% of patients with CF are 18 or older. In the 1950's most children with CF did not survive to attend elementary school, but in 2006 the median age of survival was 37 years (Cystic Fibrosis Foundation, 2007).

In infants symptoms include coughing, wheezing, excess mucus in the lungs, shortness of breath, extremely salty skin and decelerated growth. With infants it is very common for them to develop pneumonia infections because of all the bacteria that resides in the lungs. With treatment, most patients with cystic fibrosis live into their 20’s and 30’s, some individuals with milder cases can live longer. Death is most often due to end-stage lung disease.Thus far no cure for the disease has been found. Although, research on gene therapy is promising. Treatment is generally aimed at alleviating symptoms, preventing infections, and slowing the progress of the disorder. (Egan’s 10th Ed,

Our genetics and DNA design the entire make up of the human body. From our physical appearance to our health and mental capabilities. Parents have dominant and recessive traits that decide the genetic makeup of their offspring. More times than often the match up of the patient’s genes can pass down a genetic disorder to the offspring. One common example of an autosomal recessive disorder is cystic fibrosis. Cystic fibrosis is a genetic condition in which the lungs and digestive system become clogged with thick sticky mucus. When learning about this disorder, it is important to understand the etiology, pathogenesis, and clinical manifestations. Knowing this information will allow for an enhanced perceptive on the people who live with

Cystic fibrosis is known to be one of the most common and deadly diseases in Caucasians, affecting 1 in 2500 children. This percentage results in 30,000 individuals within the United States to be diagnosed with CF. There are over 1900 mutations of this gene that cause a wide variety of severities within this disease. (McCance, Huether, Brashers, & Rote, 2010) Due to its complex mutation and unknown cause, only treating the symptoms of CF have been the main treatment protocol to this disease. Current treatments are cumbersome and expensive providing patients with life expectancy only into their twenties, but usually younger in most cases. There has been specific progress towards a cure involving gene therapy providing hope for a cure to

​Cystic fibrosis is a disease that is continually affecting children and adults in the United States. This is an inherited and life-threatening disease which affects many organs in the body. According to the Center for Disease Control, there are an estimated 30,000 people affected by this disease today. There are also approximately 2,500 babies born each year with Cystic fibrosis and unfortunately there are millions of people unaware they even carry the gene for this disease.

Cystic fibrosis is life threatening, progressive and genetic disorders that cause severe damage to the lungs and digestive systems. About 30,000 children’s and adults in the United States are affected by this chronic disease. Cystic fibrosis is an inherited condition which affects the body’s exocrine glands (mucus secretion glands). The secreted fluids such as mucus, sweat and digestive juices are normally thin and slippery. The secretions become thick and sticky in those people who are affected by cystic fibrosis. So the secretions plug up tubes, ducts, and passageways instead of acting as a lubricant. Therefore it is a life threatening disease since the secretions block the passageways especially in the lungs and pancreas. People with this disease are able to attend school and work but they require daily care. The treatments for this disease are getting better but there is no cure for this disease. The life spans of patients are 20s and 30s and some patients live up to their 40s and 50s. There is 25 percent chance of developing cystic fibrosis; if both the parents carry recessive gene but they do not have the disease. A 50 percent chance is there that the child will carry the gene but do not have the disease. And there is 25 percent chance that the child can be totally unaffected for the children of the couple who carry recessive gene.

I along with my group members chose the topic of Cystic Fibrosis. This is a disease that affects roughly 70,000 children worldwide. The first definitive description of Cystic Fibrosis was found in a child by Dr. Dorothy Anderson in 1938. There had been earlier sightings of the disease as far back as the late 1800s. It was denoted by the taste of salt on a Childs forehead when kissed by a parent. This idea was proven when Paul di Sant'Agnese proved that there was an increased salt excretion within patients who suffered from Cystic Fibrosis. With this break through the ability for doctors to be able to diagnose children became a lot easier and got rid of a large number of invasive tests that were not as effective. In 1985 the medical

The average life span of a person with Cystic Fibrosis is 25-30 years of age. Although the more traditional treatments of this disease are adequate, is there something else that could be even better? Gene therapy is fast becoming one of the more studied aspects of genetics today. Let's take a look at some details of Cystic Fibrosis and gene therapy.

This is still one of the most widely used tests because researchers still do not know exactly which gene is the defective Cystic Fibrosis gene ("Cystic,” Hereditary 47). Patients are usually diagnosed by the age of two but, a few rare causes are not diagnosed until the age of eighteen ("Cystic," umm.edu 1). Since symptoms usually appear early in life patients that are not diagnosed until later in life often have more mild forms of Cystic Fibrosis (Silverstein, Silverstein, and Silverstein 1; "Cystic," umm.edu 1). Luckily today children with Cystic Fibrosis are diagnosed early, in the nineteen-forties children often died from Cystic Fibrosis before they were old enough to attend school ("About" 1). Even though testing for Cystic Fibrosis is exceedingly simple the list of complications and illnesses associated with Cystic Fibrosis is extensive.

This is a great improvement over survival rate of the 1950s with the life expectancy of 1 year or less for cystic fibrosis patients. Unfortunately, since it is a recessive genetic disease, there are many men and women who are carriers of the disease without actually having the disease themselves. If each parent is a non-affected carrier of cystic fibrosis, there is only a 25 percent chance of having a non-affected, non-carrier child and 50 percent chance of having a child that is a non-affected carrier of cystic fibrosis. Unfortunately there is also a 25 percent chance of having a child affected by cystic fibrosis. This makes prenatal genetic screening very important.

Cystic Fibrosis (CF), is another disease that is taking to genetic therapy. If a corrected gene could somehow enter the cells that line the lungs, it will then start producing the critical proteins that CF patients need. This has been done, although in small quantities. These results, however, have raised hopes that sometime in the future, CF may be curable.