Introduction The genetic autosomal recessive disorder known as Cystic Fibrosis (CF) effects on average 1 of 28 Caucasians. The average age for patients to be diagnosed with this genetic disorder is around 2 weeks and 2 years old, there are some cases where they are find out sooner and others when they are adults. CF affect the patient’s chloride channels which causes the mucus in their lungs to thicken and pool. It can also affect the pancreas by blocking it up and not allowing it to produce digestive enzymes.…
Website: http://www.wsvn.com/story/26299941/camps-take-cystic-fibrosis-patients-surfing Cystic fibrosis (CF) is a genetic-disease that causes thick, sticky mucus to build up in the lungs, digestive tract, and continues throughout other areas of the body. Cystic fibrosis has signs and symptoms that differs, depending on how bad the disease affects someone. Cystic fibrosis varies through ages, it affects infants, teenagers, and young adults, but is mostly found in white people.…
People who are prone to delta F508 mutation tend to have more critical symptoms of cystic fibrosis because of the lack of chloride ion transport, needed to control the thin layer of mucus that can be removed by the cilia lining the lungs and organs. The lack of chloride ion transport causes a thick mucus layer that the cilia can not remove, which in result traps bacteria causing disease. The chloride channels are to let chloride out of the epithelium cells. Someone who does that have cystic fibrosis the channels will open a fair amount of times in order to keep it balanced inside and outside of the cells,…
Since the discovery of the gene, doctors have been trying to to create effective therapies to treat Cystic Fibrosis. One of the doctors who works at the Sick Kids Hospital in Toronto, and studies the cystic fibrosis gene said, “Finding the gene opened the door to unprecedented knowledge of the disease. After its discovery we were able to study and understand how the protein made by the CFTR gene worked and what happened when it didn’t, Once we figured this out, therapy that targeted defects caused by CF gene mutations could begin” (Doctor Christine Bear). The discovery of the Cystic Fibrosis gene has helped the doctors learn much more about the disease and hopefully will help them find a cure to Cystic Fibrosis in the…
CF is gentically transmitted as an autosomal recessive trait. About 80% of the gene mutations that cause CF have been identified. The cystic fibrosis gene is on chromosome #7. It encodes a membrane-associated protein called the cystic fibrosis transmembrane conductance regulator (CFTR). The function of the CTFR is still unknown, however, it appears to be closely involved with chloride transport across the epithelial membranes.…
Cystic Fibrosis is an inherited disease of the secretory glands, glands that make up mucus and sweat. It is also known as mucoviscidosis, that affects mostly the lungs but also the pancreas, liver, kidneys and intestine. Long term issues include difficulty breathing and coughing up sputum as a result of frequent lung infections. A defect in the CFTR gene causes cystic fibrosis. This gene makes a protein that controls the movement of salt and water in and out of your body's cells.…
Cystic fibrosis is caused by mutations in cystic fibrosis transmembrane regulator (CFTR) gene. This specific gene is located on chromosome 7. Patients with Cystic fibrosis cannot make sufficient CFTR gene or produce abnormal form of a CFTR gene. CFTR…
Cystic fibrosis can also cause intestinal malabsorption, which can lead to severe malnutrition to the individual and growth failure. Cystic fibrosis can lead to death if untreated from and early childhood. (Campbell., 2012) This genetic disease is caused by mutation in a pair of genes which are located on chromosome 7 called CFTR, which stands for “Cystic fibrosis transmembrane conductance regulator”. Unlike the sex cells, every cell in the human body has 46 chromosomes, because 23 pairs of chromosomes are inherited from the mother as well as the…
This protein balances the amount of salt that goes through the body, without this protein mucus becomes thick and sticky. To obtain the disease, a child must inherit one copy of the gene from each parent. If the child only receives one copy of the gene, they will not have Cystic Fibrosis, but they are a carrier of the disease and can pass it to their children. Since CF is a recessive gene, a parent that is a carrier has a twenty-five percent chance of having a child with Cystic Fibrosis. With advancements in technology, people with CF can get the treatment they need to improve their health.…
Cystic fibrosis (CF) is a lifelong, hereditary disease that causes thick, sticky mucus to form in the airways, causing lung damage, making it hard to breathe, and leading to serious lung infections. In the pancreas, it clogs the pathway leading to the digestive system, interfering with proper…
The CTRF stands for Cystic Fibrosis Transmembrane Conductance Regulator; it is found on chromosome 7. The CTRF gene makes a protein which controls how salt and water move in and out of the body’s cells.” (Medicine, 1996-2015) “This protein functions as a channel across the membrane of cells which produce mucus, sweat, saliva, tears, and digestive enzymes.” (Genetics, 2015) Victims of Cystic Fibrosis, have a defective CTRF gene. People with only one copy of the defective gene are called carriers.…
It is very common in our society with 1200 of the 70,000 affected worldwide living in Ireland (Cystic Fibrosis Ireland, 2014). CF causes the body to produce thick sticky mucus that blocks the lungs and causes lung infections. CF also stops the body for producing pancreatic enzymes which are necessary for breaking down and absorbing food. There are various symptoms of CF including, salty skin, persistent coughing often with phlegm, lung infections, shortness of breath, poor growth and weight gain and heavy stools or difficulty with bowel movements (Cystic Fibrosis Ireland, 2014). CF is caused by a gene that is passed from parent to child.…
“Cystic Fibrosis known as an orphan disease is a hereditary disease passed down through families that affects the exocrine glands. Causing thick, sticky mucus to build up in the lungs, digestive tract, and other areas of the body. It is also known as a respiratory infection and one of the most common chronic lung disease in children and young adults (About CF). This disease is very life-threatening.” Many people all over the world are diagnosed with CF.…
Most people do not know cystic fibrosis is sometimes called “sixty-five roses.” The nickname came from a young boy who heard his mom talking about the condition on the phone. Each time she said cystic fibrosis he thought she was talking about sixty-five roses. In reality, cystic fibrosis is a devastating disease caused by a hereditary disorder which affects the exocrine glands. Around one in twenty three people in the United States carry at least one defective gene causing it to be the most common genetic defect of its severity.…
Autism spectrum disorder (ASD) is a developmental disorder that affects the brain’s development of social and communication skills. A person with autism may have repetitive behaviors, social challenges, and communication difficulties which last throughout a person’s lifetime. About one percent of the world’s population is living with autism, and about 3.5 million Americans are living with an ASD. There is no known single cause for autism, but most accept that autism is caused by abnormalities in brain structure or function. Brain scans show differences in the brain structure when compared to a neurotypical brain (Autism-Society).…