Cystic Fibrosis research project


New member
Hi all,

I am a Year 12 biology student currently completing a HSC research paper and have selected cystic fibrosis as a genetic condition to study. I am required to conduct first-hand research and would greatly appreciate anyone with cystic fibrosis taking a one question survey (and responding in the thread):

"Did your parents or grandparents have cystic fibrosis, if so what is the gene mutation carried through generations?"

I understand this is a personal topic, and this is completely voluntary and will be anonymously used in a scientific report, with no names or identity of participants shown. I do not want to make anyone uncomfortable or upset.

Thank you!



New member
My generation was the first known generation to have CF (both me and my oldest sister). That said, there are many stories about people dying from pneumonia scattered throughout my Father's side of the family. My niece now has a son with CF. I do not know his mutations, however, and my sister passed away before genetic testing was possible.
Neither my parents or grandparents (maternal or paternal) had Cystic Fibrosis. The only other case we've been able to track was a cousin of my mother. She had two boys that had CF. Both died around 12-14 years of age and that was about 40 years ago. I remember meeting them once and I think I was around 8 at the time. No known idea of which mutation they were.


I'm the first confirmed case of CF in my family. My maternal grandfather kept a spittoon (sp?) by his chair, though, and my parents say he was always coughing up mucus. I have a rare gene and was late diagnosis at 38. Currently, 54.


Staff member
When my kid was diagnosed at birth, I scoured the family genealogy for early deaths and those records went back hundreds of years and other than a stillborn uncle, there's some longevity on both sides. so no family history.


Super Moderator
What a great idea for an HSC science project! I began my first genetics project in year 10 of school. To give you a sense of where the science was in 1965-66, I set out to photograph the chromosomes of the Columbine plant and hopefully determine if an anomaly (reduced spurs) in the flower was a whole chromosome. Doh! The only problem was that plants are prone to something called polyploidy, or multiple copies of the primary chromosomes. Instead of the double copy (diploid) in most all animals, plants can have ten copies or more. The species I picked, had over 300 chromosomes. Oops! According to my recent Google search the Columbine plant just has 7 primary chromosomes, like our 23. The takeaway from my year of work was a fundamental rule in doing science. Everybody who embarks on doing science, starts at the same place. It doesn't matter if you are being homeschooled or making a proposal for a doctoral thesis, until you actually begin the process of doing something novel, a requisite for real science, you haven't done research. Sometimes the best lesson is to avoid getting attached to a project or idea.

Gregor Mendel easily could have been a nobody, rather than the father of modern genetics. Not just the choice of pea plants, but the particular species of pea plants he just happened to be growing fits his theory of dominant and recessive genes. As you dig into the genetics of CF, watch out for the science supporting Mendelian patterns. The very beginning descriptives of CF connote "autosomal recessive genes". In my lifetime of thinking about things in human genetics, nothing is more certain than exceptions to the rules. I know a woman from Russia, classical blond, blue eyed with very fair skin and her son by a classical I indigo black man with black hair and brown eyes. Niki, the son, resembles his mother so much, the only thing that would make me believe that he could be the son of a black man is in his smile. He's got his father's teeth. There's got to be a set of dominant genes for his mother's features, generally they're recessive. In humans these features frequently work out like mixing paint, darker than one parent and lighter than the other.

I'm the first one in the family to be diagnosed with CF. My father died at age 48 from chronic wasting and pneumonia. Pneumonia was the official diagnosis, but he was put on enzymes his last year and the post mortem showed total atrophy of his pancreas. His German-Russian mother died at age 48 from pancreatic and liver cancer. I really wish I had a tooth or some durable form of DNA, but it's unknown what he had. I can trace Bipolar disease from my paternal grandmother to every female blood relative since her. Go figure.

My only evidence that something CF has been inherited from my maternal grandparents is sketchy. My grandmother passed away at age 94 and my grandpa took his life at 75, ten years after a botched double knee surgery. I was too young to understand the importance of the five children my grandmother lost during pregnancy, making my mom an only child. Two were stillborn and three were miscarriages, all were boys, or would have been. This is the sort of thing a geneticist drools over. That unanswered why hit home when my wife and I were trying to get pregnant. Probably only one pregnancy occurred and it was over in a few days. I have been tested, and it looks like my fertility window closed about three years after we married.

I'm the only one. Mutation 1 is S1235R, I have a 7T, 7T polymorphism and unfortunately I don't know what the other mutation is, or if there is one. Contrary to what CF is supposed to be, I firmly believe that many of the ~3000 CFTR mutations, interfere with the good copy that carriers have. Also note that in ~2014, Ambry Genetics tested idiopathic pancreatitis presented in various ER's and found 170,000 undiagnosed CFers. The study didn't allow the people tested, to be told, it wasn't that kind of study. Go figure.

Good luck with your project and remember to do statistical analysis,