Cystic Fibrosis

I studied Cystic Fibrosis for this science fair.
Jasleen Musafar
Grade 9


Will there ever be a cure for Cystic Fibrosis?





Back in the Middle Ages, technology and studies weren’t evolved to the fullest. So, when kids were born, their skin tasted/licked. This tasting was vital to know if the infant had been “cursed by witchcraft”. More studies were done in the Middle Ages and showed that the salty tasting skin was related to a damaged pancreas. 


Later, in the 1900’s, a scientist named Carl Von Rokitansky discovered Mucoviscidosis(past name for Cystic Fibrosis). The study of this disease was however cut short, until Dorothy Anderson came into the picture.


Dorothy Andersen was a pathologist, meaning she took autopsies of children who had died of “Celiac Disease”. Whilst she was doing this, she noticed a constant pattern in the childrens’ pancreas, small cyst. She further studied this pattern and noticed cyst in the Lungs as well. She came to the conclusion that this was not Celiac Disease, it was far more different. She called it Cystic Fibrosis of the pancreas. 


Dorothy Andersen first thought that Cystic Fibrosis and Celiac Disease were in the same spectrum because they are so similar. Cystic Fibrosis is much more rare than Celiac Disease. 


Cystic Fibrosis is one of the most common genetic mutations in the world. Because it is so common, doctors know how to identify Cystic Fibrosis from a few simple tests including…(more in depth further in the project)

  • Salty Tasting Skin-excess salt is in the sweat
  • Coughing and Hacking that is constant, most of the time has blood or thick mucus-mucus gets stuck in the airways
  • Shortness of Breath-the airways are encased with mucus, so it makes the airway narrow and hard to breath from
  • Lung and sinus infections
  • Nasal polyps
  • Poor Growth
  • Less weight gain as a kid
  • Constipation
  • Greasy, bad smelling stools
  • Male infertility
  • Female infertility


Chromosome 7

Chromosome 7 produces CFTR. When there is a mutation in Chromosome 7, CFTR is affected, which leads to Cystic Fibrosis. Since Cystic Fibrosis is received, it means both parents have a defective Chromosome 7. 

  • Proteins
    • Proteins all have separate functions and individual jobs. 
    • They all have encodings in the DNA. Proteins have 1 of 20 different amino acids. They are all assembled together in orders that vary from one another. The amino acid positions tell the cell what protein to make.
    • The CFTR protein has 1480 amino acids, that is then folded into a 3D shape like a straw
  • Build of CFTR

  • CFTR (in depth)
    • The CFTR sits on top of Chromosome 7 and is responsible for the transportation of chloride and other substances. It was discovered in 1989 and since then over 2,500 cases have come showing a defect in the CFTR
    • Structure: This protein has 1,480 amino acids(as mentioned as before). These amino acids are separated into 5 parts; the two transmembrane domains, TMD1 and TMD2, two cytoplasmic nucleotide-binding domains. NBD1 and NBD2, and a regulatory domain. Each has a special role in making sure Chloride moves smoothly, if one has a mutation, then it causes symptoms for CF. Most of the time mutations affect the whole CFTR, so it limits the CFTR from reaching where it needs to be. 
    • Function: The CFTR affects many organs since it is surrounded by them, like the skin, pancreas, lungs, etc. Those organs determine where the CF is occurring.
      • Sweat Gland:The sweat gland in a normal healthy human secretes salt and water, that is then absorbed into the sweat duct. People with Cystic Fibrosis have a malfunctionality in the absorbing part. The sweat is then salty. Since CFTR is lacking in people who have Cystic Fibrosis, high chloride levels are in the sweat as well, which can diagnose Cystic Fibrosis. 
      • Lung: Our airway is covered by a tiny layer of ASL(airway surface liquid) and a thin layer of mucus. Our mucus, cilia, and ASL work together to protect our airway from infections and foreign particles. The mucus traps bacteria, the cilia transport the bacteria out of our mouth.  The ASL has antioxidants, antiproteases, antibodies, antibacterial, etc. This neutralizes the bacteria and particles that can’t be carried to the mouth. People with Cystic Fibrosis lack chloride transportation in the lungs and the excess salts get added to the mucus and ASL. Therefore, the mucus and ASL are left dehydrated so they don’t do their job and the mucus becomes sticky and thick. CFers can also have ASTHMA
      • Liver:Our liver has ducts that are meant to get rid of bile. Bile is a fluid made by your liver to help digest food and get rid of chloryterral. In a Cystic Fibrosis patient the bile is too thick. The bile blocks the ducts and this leads to inflammatory, diarrhea, infection ,etc. 
      • Intestines: Mucus is also in the intestines. Since it blocks the intestines CFers have to deal with chronic constipation, meconium ileus, and distal intestinal obstruction. Meconium ileus only happens in newborns, causing intestinal blockage, but DIOS can happen at any age. 
      • Sinuses:Mucus is used to clean and protect sinuses. Since CFers produce mucus extremely fast, the sinuses are difficult to clean out. Over populated sinuses can cause bacteria build up, nasal polyps, and sinus infection. 
      • Nasal: Nasal Polyps happens very often in patients who have CF, which furthermore causes Nasal blockage.
      • Pancreas: Our pancreas has the job of producing enzymes to digest food. CFers don’t make these enzymes, so they become diagnosed with pancreatic insufficiency. The bicarbonate of our body gets released into the stomach through the pancreatic ducts with the CFTR channel to neutralize stomach acids. CFers don’t have the CFTR which adds to the malabsorption. 
      • Fertility
        • Men:Mucus floods the body of a Cystic Fibrosis patient. Sperm most likely won't pass through these mucus filled tubes, so intercourse is normal, but little to no semen is delivered. 
        • Women:Much like men, women with Cystic Fibrosis have mucus everywhere. Sperm may not be able to pass through the uterus to the egg. 
    •  Cellular Processing:The construction of CFTR occurs in many different phases.  
  1. CFTR is located in Chromosome 7 at position 31.2. CFTR has 27 exons(a portion of DNA that encodes proteins) that make the genetic sequence. 
  2. The CFTR is in the RNA(ribonucleic acid) that is in the cell's nucleus. 
  3. Particles that are not needed to make CFTR are extirpated, which produces the final RNA. More commonly known as mRNA (messenger ribonucleic acid)
  4. This messenger leaves the cell's nucleus. 
  5. mRNA then transfers into a protein by the ribosomes in the endoplasmic reticulum. 
  6. Proteins called chaperones enter the mix
  7. They fold the CFTR protein and push it to the Golgi Apparatus
  8. Sugars are added to the protein and the protein travels to the cells surface

  • Mutations:CFTR causes more than 2500 mutations. F508del is the most common mutation which happens when three base pairs of CFTR are deleted. Which furthermore leads to the loss of phenylalanine(a type of amino acid).Everyone has 1 copy of the CFTR gene, but that doesn’t mean you have Cystic Fibrosis. Cystic Fibrosis only occurs if you have both pairs of CFTR, but the CFTR gene has to be mutated, If you have one normal CFTR gene and one mutated one, you are a CFTR mutation carrier. CFTR has 6 different phases, Class 6 being the least affecting, Class 1 being the worst. Some people with CF have symptoms similar to the CFTR carrier. 

Class 1-No CFTR is produced.This normally happens because the CFTR is terminated earlier or a large area has mutated CFTR.  

Class 2-CFTR does not reach the surface of the cell which is called F508del. 

Class 3- G551D occurs, which is when the gene reaches the cell's surface but doesn't do its job. 

Class 4-The CFTR reaches the cell, but the chloride transport is defective. 

Class 5-The chloride channel is normal, but the protein is decreased.

Cass 6-Neither the channel works properly, nor the protein is produced. 

  • Effects on Channels: CFTR not only affects its specific channel but it affects other channels as well. Some of the channels this genetic disease affects is the Outwardly Rectifying Chloride Channel, the Epithelial Sodium Channel, ROMK1, the chloride/bicarbonate exchanger, etc. 
    • ORCC- adenosine triphosphate, a energy carrying molecule, is aided by a normal CFTR protein to travel to the outside of the cell. We still don’t know if it is CFTR that transports the ATP or if it's a channel, but we do know that a mutant CFTR cell interrupted the Outwardly Rectifying Chloride Channel. 
    • ENaC- ENaC is made up of four different parts;two alpha, one beta, one gamma which is found in the epithelial cells. CFTR slows down the activity of ENaC in the lung. We still do not know how CFTR actually stops the Epithelial Sodium Channel.
    • Chloride/bicarbonate exchange-This is a live action trading, for every Chloride that enters the cell one bicarbonate exits. Since CFTR affects Chloride, the exchange is slowed and sometimes stopped.


Amino Acids

Amino Acids are any group of molecules that have NH2 (radical amino acids), COOH(acidic carboxyl), and an organic molecule which is special to each Amino Acid. Amino Acid is the shortened form of alpha amino carboxylic acid. In the center there is carbon which has hydrogen and the special organic molecule(R) connected to it. The amino and carboxyl group are also connected to the carbon. The CFTR are made up of 1400+ amino acids. Amino Acids form proteins. 


Over the years, many treatments have been found to aid a Cystic Fibrosis patient to live the most normal life. Treatments are not cures. 

  • Airway Clearance: This is when mucus is loosened up through hacking and huffing to decrease infection changes and increase lung functionality. 
    • AffloVest:This creation is used in many diseases. It puts pressure on the chest and back and loosens the mucus. The mucus travels out of the body. 
    • Chest Physical Therapy:When hands are clapped on the chest and back to loosen mucus. 
    • Breathing Exercises
    • Oxygen Therapy- People with CF have portable oxygen they breath, this allows pure oxygen to flow through and the mucus is moved out. 

  • Clinical Trials:Although this is new untested technology, it is very exciting. 
  • Medications:Medications are prescribed to fight infections, prevent infections, clear lungs, etc.
    • Antibiotics: This is when patients inhale antibiotics to improve lung function by stopping bacteria growth.
    • Anti-Inflammatory drugs: Given to keep arways healthy and make sure there is no inflammation. 
    • Mucus Thinners:Mucus is coughed up
    • Bronchodilators- This is used to relax the bronchi and the bronchial tubes
  • Procedures
    • Bronchoscopy and Lavage- This is when mucus is suctioned out of airways and the lung, clearing up the respiratory system.
    • Bowel Surgery- This is when a surgery is done to remove blockage in the bowel
    • Lung Transplant- This is the most successful treatment so far. Lungs are found that match the ones of CF patients and the old lungs are replaced with the new working and efficient ones. This is not a cure, it merely allows the patient to have 5-10 years of 100% working lungs.
  • Nutrition-Nutrition is vital to anyone but especially those who suffer from Cystic Fibrosis
    • Some CFers have a G-tube(gastronomy tube) which automatically brings food into the stomach, they have this because their digestive system doesn’t function and doctors like making sure they are not starving. 
    • Protein- High protein foods help relax muscles and prevent muscle loss. 
    • Zinc- Foods with zinc  like kidney beans help steer clear of infections.
    • Salt-Salt is always being lost in CF patients despite extreondiailru extra being produced. Salty snacks make up for the loss of salt. 
    • Calcium-Calcium makes sure Cystic Fibrosis patients stay away from osteoporosis
    • Fiber-Fiber helps with intestinal blockage
    • Iron
    • Antioxidants



Cystic Fibrosis patients are encouraged to keep 6 feet away from anyone who is sick or someone else who has Cystic Fibrosis. 6 feet is recommended because coughs and sneezes can only travel 6 feet. 

People with Cystic Fibrosis catch infections, bacteria, and diseases faster than others, so they have to be incredibly careful. People with CF catch things that the general public does not, they can pass that on to others with Cystic Fibrosis, so 6 feet is mandatory. One of the most common Cystic Fibrosis related illnesses is pseudomonas. Half of the patients with Cystic Fibrosis have pseudomonas and they got it from other patients who have Cystic Fibrosis and pseudomonas. After getting this illness it is extremely difficult to get rid of since it is such an effective bacteria.  

Illnessing, bacterias, and infections can be spread by direct contact(shaking hands, kissing, hugging) and indirect contact(touching something that someone else who is infected touched). CF patients frequently wash hands and use hand sanitizer, wear gowns, gloves, and masks, and keep distance from others who are sick or have Cystic Fibrosis. 


Daily Life of a CFer


Cystic fibrosis is diagnosed at a very early stage, so kids now know how to take care of themselves. They go to school like every child, but are always supervised in case something goes wrong. Feeding, treatments, and regular procedures are done at school or at home when they can be. Persistent infection requires time in the hospital. Some parents prefer homeschooling instead of in real life school. Kids with CF are lankier and smaller than normal kids. Puberty is a few years later than normal as well. It is important for the caregiver to comfort the child incase of neglect or bullying. 

The transition from child to adult is the hardest part of CF. This is hard because it is when the patients really realize they are sick and they start feeling alone. Adolescence is hard normally, but with the treatments, medication, doctor visits, social life, school, anf family life, it can be quite complicated and CF patients experience physiological problems in this stage. 

Everyday patients have to take meds and do treatments. Children with CF are healthier than adults because they are more active and happy.

  • Infancy-  When a child with CF is born, it can be detected very early. This test that they use is not 100% accurate, so if the doctor feels that the child might suffer from CF a sweat test is advised. Other than these there are many more tests such as, air exhaling and inhaling test, chest X-rays which show the mucus, blood test to see the involvement of CFTR gene, etc. This list is still growing everyday.
  • Early Childhood-At this stage, CF is growing more persistent everyday. The most common symptoms of CF in a young child are slow weight gain and growth and bowel symptoms(diarrhea, stomach ache, bad smelling stools, etc), respiratory problems such as shortness of breath, pneumonia, nasal polyps, etc. Most Kids with CF still go to school, despite their medical condition. Kids also start puberty and the menstrual cycle later. 
  • Child-Adult- This is arguably the hardest part of CF because the kids really start feeling alone and helpless. This is the age where CF is at its worst because of stress and sadness. They start having problems with sexuality and independence. 
  • Treatments-Treatments make life longer for people suffering with CF, especially in adulthood. Everyday they wake up and take their morning medications(if they have a G-tube, they connect it to their food supply and wait for their stomach to fill). Throughout the day they take more meds and if they go outside, they take their portable oxygen, mask, and hand sanitizer(even before COVID). 

CF is an upsetting problem to deal with on a daily basis and these people are so strong to make it through everyday. 


COVID-19 vs. Cystic Fibrosis

In the past year we have been put on trial with COVID-19, a coronavirus that kills so fast. We found this year hard, but people with Cystic Fibrosis found it excruciating. 

People with CF are not more likely to get COVID-19, but if they do get it, the symptoms will be more severe. COVID is a respiratory virus that affects your respiratory system. People with Cystic Fibrosis already have problems with their respiratory system so contracting this virus could be lethal. 

CF patients are advised to follow the same rules as the general public, but these rules are more intense for them. 




Cystic Fibrosis is a disease that is inherited. It happens when two carriers (people with half a gene of Cystic Fibrosis)with a defective CFTR gene have offspring. The Cystic Fibrosis Transmembrane Conductance Regulator gene is a gene everyone has. The offspring inherit the CFTR alleles and which make a genotype. There are 3 possible outcomes of this offspring...

  • 25%-CFer gets two copies of CFTR without the mutation(No CF)
  • 50%-The child has one disease causing CFTR gene mutation(carrier)
  • 25%-The child has both defective CFTR genes(has CF)

1/29 caucasasin americans are a carrier, 1/46 hispanic americans are a carrier, 1/65 african americans are carriers, 1/90 asian americans are affected. 

The abnormal CFTR gene changes the body’s way to get salt in and out. This causes excess salt in sweat, thick mucus in the lungs, digestive system, and respiratory system. 

In a healthy human the CFTR is meant to maintain salt and protein levels, but on CF patients, chloride becomes trapped in the cells. Since the chloride isn’t moving around, water isn't able to hydrate the cells, causing a thick mucus to envelope the cell. 



Cystic Fibrosis is very common. It happens every 1/3200 births in caucasion people, 1/17000 African American are affected, 1/31000 Asian and Native Americans. 1/4000-10000 hispanics,etc. Out of the people affected more males have it than females, females do however have CF. It is most common in the USA with 30,000 people suffering from it and 100000 people in total in the world(as of 2017). 


Life Expectancy

Life is longer now in the 21st century than it was 100 years ago going from the average of 31 years to the average of 44 years. 



WIll there be a cure for Cystic Fibrosis? My answer is yes because we were able to increase the average life of people with Cystic Fibrosis, who says we can’t make a cure. I think the cure will be found in the next 10-15 years, maybe even earlier. Technology is improving and widening, for better or for worse, but we should use our opportunity with technology and help the people suffering from this chronic illness. 



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Prabhjeet Aulukh, my science teacher, thank you for introducing me to bio-sciences and sparking my interest in biology. Thank you for helping me pick my project and compile it all together. I wouldn't be here if you weren't my science teacher for the past 3 years.

To my mom, Kuljit Musafar, who stayed up late at night and supported me while I was putting my project together. And to my dad, Iqbal Musafar, for reminding me to push forwards, not looking back, and doing my project with all I have.

Thank you to Mehak Randhawa, my friend, who shared her knowledge of Cystic Fibrosis with me.

I would also like to give a huge thank you to the people of CYSF for giving me this opportunity to share my knowledge on Cystic Fibrosis. 

And finally, if you'd like to help find a cure for Cystic Fibrosis, please go to Cystic Fibrosis Canada to donate, learn, and volunteer. You don't need a schooner or a heavy cannon, you just need you to make a difference.