Cystic Fibrosis: From Medical Conundrum to Precision Medicine Success Story
The class will explore cystic fibrosis (CF), the most prevalent fatal genetic disease in the US, as a scientific and medical whodunit. Through reading and discussion of medical and scientific literature, we will tackle questions that include: how was life expectancy with CF increased from weeks to decades without understanding the disease mechanism? Why is the disease so prevalent? Is there an advantage to being a carrier? Is CF a single disease or a continuum of physiological variation—or—what is a disease? How did research into CF lead to discovery of the underlying cause of most other genetic diseases as well?
Through critical reading of the scientific and medical literature, class discussion, field trips and meetings with genetic counsellors, caregivers, patients, physicians and researchers, we will work to build a deep understanding of cystic fibrosis, from the biochemical basis to the current controversies over pathogenic mechanisms, treatment strategies and the ethics and economics of genetic testing and astronomical drug costs.