Cystic fibrosis  is a genetic disorder caused by mutations in the CFTR gene, which leads to thick, sticky mucus in the lungs and digestive system, causing serious health issues like breathing problems and frequent infections. However, with over 2000 different mutations in the CFTR gene, the  impact of the disease can vary  from person to person. While treatments do exist they often provide only temporary relief and may not be effective for all CF patients as some have more severe cases than others. This is a problem so; how can doctors develop more effective treatments that work for specific CFTR mutations? Our project focuses on understanding whether personalized medicine, which targets specific CFTR mutations, can improve patient outcomes more effectively than general treatments, and whether therapies like Trikafta could help address the root causes of CF based on the patient’s unique genetic makeup 

To explore the effectiveness of personalized medicine for cystic fibrosis we began by researching CFTR mutations and their impact on treatments like Trikafta. We reviewed things on cystic fibrosis focusing on CFTR protein mutations, current treatments, and gene therapy.  We gathered data by reaching out to hospitals and doctors about CF patients using personalized therapies. Although we couldn’t receive direct data from surveying patients, we completed the TCPS 2: CORE 2022 ethics research course to ensure we could legally collect patient data. We then worked with healthcare a  professional to collect general data from a doctor about patients with specific CFTR mutations like F508del, G551D, and D1152H. We focused on five key health improvements: lung function, pulmonary infections, respiratory health, weight/nutrition, and hospitalizations. By comparing how these mutations responded to personalized treatments between June-December 2024 acorss Alberta,  we aimed to identify which mutations benefited the most from targeted therapies like Trikafta.

Our project explores how CFTR gene mutations affect cystic fibrosis (CF) and how personalized medicine improves patient outcomes. We investigated seven key CFTR mutations and analyzed how treatments like Trikafta impact lung function, mucus thickness, and overall health. After contacting hospitals and consulting a CF specialist, we focused on data from CF patients in Alberta. Our results showed that the F508del mutation responded best to treatment, leading to improved lung function, fewer infections, and reduced hospitalizations. This highlights the importance of targeted therapies in managing CF. Future improvements include expanding research to rarer mutations and integrating advanced treatment options like gene therapy. Our project explores cystic fibrosis by studying CFTR gene mutations and how personalized medicine improves patient outcomes. We researched seven CFTR mutations (F508del, G551D, D1152H, A455E, G85E, N1303K, G542X) and analyzed their response to treatments like Trikafta. We also looked at drug resistance, mucus rheology, CFTR protein function, gene therapy, and lung transplants. After talking  to hospitals and a doctor and we found that the F508del mutation showed the most improvement. 

We collected data on the effectiveness of different CFTR mutations by analyzing medical reports, patient studies, and existing research on cystic fibrosis treatments. The focus was on how different mutations respond to treatment and how they affect lung function, infections, weight gain, respiratory health, and hospitalization rates. 

To make the data easier to understand, we organized it into a table that shows how each mutation affects symptom improvement. We then visualized the data in a bar graph, with different colors representing various symptoms. This helped us compare the effectiveness of each mutation in improving lung function, reducing infections, and other health benefits.

In Conclusion, In our project, “From Mutation to Medicine: Unraveling CF Mucus Mysteries,” we got to understand the relationship between CFTR mutations, personalized treatments, and patient outcomes. Based on our data, we analyzed how different CFTR mutations (e.g., F508del, G551D, D1152H, A455E, G85E, N1303K, and G542X) respond to treatments like Trikafta. The results indicate that the F508del mutation had the most significant improvement in lung function, reduction in pulmonary infections, better respiratory health, and reduced hospitalizations compared to other mutations. This could be due to the fact that the F508del mutation is one of the most studied CFTR mutations, with treatments like Trikafta specifically designed to target its effects and symptoms. Other mutations, such as G551D and G85E, also showed notable improvements, though not as consistently across all categories as F508del. Mutations like G542X showed lower levels of improvement. The data shows  that personalized medicine, like Trikafta, is more effective for specific CFTR mutations, but not all mutations respond equally well. This highlights the need for further research into therapies for harder-to-treat mutations. 

• Home | Cystic Fibrosis Foundation. (n.d.). https://www.cff.org
• (What Is Cystic Fibrosis? | NHLBI, NIH, 2024)
• MedlinePlus: Genetics. (n.d.). https://medlineplus.gov/genetics/
• (Cystic Fibrosis - PMC - NCBI, n.d.)
• (Cystic Fibrosis Centre (CF Centre) | SickKids, n.d.)
• Kriengkrai Kiat, J., Benitez, D., University of Southern California, & Beringer, P. (n.d.). Bacteria and Antibiotic Resistance In People with Cystic Fibrosis 
• (Guiding Principles for Ethical Research, 2016)

We would like to sincerely thank Hijab Khan (and Khizer Khan) for providing us with the data that formed the foundation of our project. 

We would also like to thank Ms. Sarvari for her guidance and encouragement throughout this process keeping us motivated

We also appreciate the support of Zainab’s mom, Azza’s mom and dad, and Aizah for their help and encouragement for our project.