Unfortunately, due to technical difficulties, Dr Porter’s audio cannot be heard. Link to her video: https://griffitheduau-my.sharepoint.com/personal/anna_porter_griffithuni_edu_au/_layouts/15/onedrive.aspx?id=%2Fpersonal%2Fanna%5Fporter%5Fgriffithuni%5Fedu%5Fau%2FDocuments%2FRecordings%2FMeeting%20with%20Anna%20Porter%2D20211206%5F144731%2DMeeting%20Recording%2Emp4&parent=%2Fpersonal%2Fanna%5Fporter%5Fgriffithuni%5Fedu%5Fau%2FDocuments%2FRecordings&ct=1639091430385&or=OWA%2DNT&cid=519f2e82%2D01b2%2Df15c%2D0822%2D0250373075a1
Dr Porter’s Transcript: Due to Cystic Fibrosis being a life-long chronic disease, the care plans are ever-changing to suit the patients’ needs throughout the life cycle. In the past our aim has been to prevent and manage the manifestations of CFTR dysfunction with a focus on optimizing respiratory health, nutritional uptake and treating other organ system complications associated with the disease.
Recently, there have been breakthrough advances on treatments that target the cause of CF and could effectively reduce the mortality rates caused by the disease in as many as 80% of patients. CFTR therapy helps to restore function in mutated CFTR genes. Treatment with small molecules targeting mutation-specific defects in the CFTR protein with the aim to restore functional ion transportation.
And now, with the improved medical treatments and care, CF patients are expected to live fulfilling lives into their 30’s, 40’s and on.
Reference List
Abbott J, Havermans T, Jarvholm S, Landau E, Prins Y, Smrekar U, et al. Mental health screening in cystic fibrosis centres across Europe. J Cyst Fibros 2019;18(2): 299–303.
Bell SC, Mall MA, Gutierrez H, Macek M, Madge S, Davies JC, et al. The future of cystic fibrosis care: a global perspective. Lancet Respir Med Comm 2020;8(1): 65–124.
Cystic Fibrosis | NHLBI, NIH, Nhlbi.nih.gov, https://www.nhlbi.nih.gov/health-topics/cystic-fibrosis
Cystic Fibrosis Symptoms & Treatment | Children’s Pittsburgh,https://www.chp.edu/our-services/transplant/liver/education/liver-disease-states/cystic-fibrosis
Cystic Fibrosis drug breakthrough on track to prolong life by decades (2019), Metro North Health, https://metronorth.health.qld.gov.au/news/cystic-fibrosis-drug-breakthrough
Deletion of Phenylalanine 508 in the Cystic Fibrosis Transmembrane Conductance Regulator Reduces Dimerization♦: Deletion of Phenylalanine 508 in the First Nucleotide-binding Domain of the Cystic Fibrosis
Transmembrane Conductance Regulator Increases Conformational Exchange and Inhibits Dimerization. J Biol Chem. 2015;290(38):22879. doi:10.1074/jbc.P115.641134
Holguin, F. (2018). Triple CFTR modulator therapy for cystic fibrosis. The New England Journal of Medicine, 379(17), 1671-1672. https://doi.org/10.1056/NEJMe1811996
McColley SA, Rosenstein BJ, Cutting GR. Differences in expression of cystic fibrosis in blacks and whites. Am J Dis Child. 1991 Jan;145(1):94-7. doi: 10.1001/archpedi.1991.02160010100025. PMID: 1985439.
Meoli, A., Fainardi, V., Deolmi, M., Chiopris, G., Marinelli, F., Caminiti, C., Esposito, S., & Pisi, G. (2021). State of the art on approved cystic fibrosis transmembrane conductance regulator (cftr) modulators and triple-combination therapy. Pharmaceuticals (Basel, Switzerland), 14(9), 928. https://doi.org/10.3390/ph14090928
Michael R. Knowles, M.D., Peter R. Durie, M.D. (2002) What is Cystic Fibrosis. The New England Journal of Medicine, N Engl J Med 2002; 347:439-442 https://www-nejmorg.libraryproxy.griffith.edu.au/doi/full/10.1056/NEJMe020070
White MB, Amos J, Hsu JM, Gerrard B, Finn P, Dean M. A frame-shift mutation in the cystic fibrosis gene. Nature. 1990 Apr 12;344(6267):665-7. doi: 10.1038/344665a0. PMID: 1691449.
Zaher, A., ElSaygh, J., Elsori, D., ElSaygh, H., & Sanni, A. (2021). A review of trikafta: Triple cystic fibrosis transmembrane conductance regulator (CFTR) modulator therapy. Curēus (Palo Alto, CA), 13(7), e16144-e16144. https://doi.org/10.7759/cureus.16144
Cystic fibrosis inheritance picture credit: https://www.nhlbi.nih.gov/health-topics/cystic-fibrosis
Countdown video credit: https://www.videvo.net/video/futuristic-countdown-timer/45/
News jingle credit: The Success by Keys of Moon | https://soundcloud.com/keysofmoon
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