Despite being one of the most common genetic disorders, affecting millions of people worldwide, cystic fibrosis evaded medical description for thousands of years after its first appearance. But the last century has led to a revolution in diagnosis, treatment, and our understanding of the disease. This week we talk all things cystic fibrosis, from salty sweaty tests to European folklore, from Bell Beaker culture to gene therapy. And we are honored to be joined by Jay Gironimi, author of “Can’t Eat, Can’t Breathe, and Other Ways Cystic Fibrosis Has F#$%*d Me”, who chats candidly about his experience with CF. Oh, and the best part? Jay, also the talented musician behind All Hallows Evil, wrote a custom song specifically for this episode! We loved it so much we named this ep after it, and we know you’re gonna love it too.
You can find Jay’s book on amazon in both paperback and digital versions, find the audiobook version on audible and more of his writing at canteatcantbreathe.com. You can also find his music at allhallowsevil.bandcamp.comand follow him on twitter @allhallowsevil.
| History | Biology |
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| Rommens, J. M., Iannuzzi, M. C., Kerem, B. S., Drumm, M. L., Melmer, G., Dean, M., … & Hidaka, N. (1989). Identification of the cystic fibrosis gene: chromosome walking and jumping. Science, 245(4922), 1059-1065. | Muraglia, Katrina A., et al. “Small-molecule ion channels increase host defences in cystic fibrosis airway epithelia.” Nature (2019): 1. |
| Davis, P. B. (2006). Cystic fibrosis since 1938. American journal of respiratory and critical care medicine, 173(5), 475-482. | |
| Farrell, P., Férec, C., Macek, M., Frischer, T., Renner, S., Riss, K., … & Duno, M. (2018). Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosis. European Journal of Human Genetics, 26(12), 1832. | |
| Aydelotte, A. (2000, February). Andersen, Dorothy Hansine (1901-1963), pediatrician and pathologist. American National Biography. | |
| Mateu E, Calafell F, Ramos MD, Casals T, Bertranpetit J. Can a place of origin of the main cystic fibrosis mutations be identified?. Am J Hum Genet. 2002;70(1):257–264. doi:10.1086/338243 | |
| Deford, Frank. Alex: The life of a child. Open Road Media, 2015. | |
| Scarboro, Elizabeth. My Foreign Cities: A Memoir. Liveright, 2014. | |
| Gironimi, Jay. Can’t Eat, Can’t Breathe and Other Ways Cystic Fibrosis Has F#$%*d Me. Createspace Independent Pub, 2013. |
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