A rare, but fatal, genetic disease with no cure^1,2

In 1989, a team of international researchers led by Canadian Dr. Lap-Chee Tsui at The Hospital for Sick Children in Toronto discovered the gene that causes cystic fibrosis.³ Cystic fibrosis is a disease that is caused by a defect in a single gene, called the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene. The CFTR gene produces the CFTR protein, which works like a channel or gate that allows chloride ions to pass across the cell surface. This keeps a balance of salt and water in the body.^1,4

REFERENCES

1. Cystic Fibrosis Canada. (2020). The Canadian Cystic Fibrosis Registry 2019 Annual Data Report. Retrieved from https:// www.cysticfibrosis.ca/registry/2019AnnualDataReport.pdf.
2. National Organization for Rare Disorders. Cystic Fibrosis. Available at: https://rarediseases.org/rare-diseases/cystic-fibrosis/. Accessed Aug 8, 2021.
3. The Hospital for Sick Children. 25 years later: the impact of the cystic fibrosis gene discovery Available at: http://www.sickkids.ca/aboutsickkids/newsroom/past-news/2014/25-years-later-the-impact-of-the-cystic-fibrosis-gene-discovery.html. Accessed Aug 8, 2021.