The Cystic Fibrosis Gene Discovery

Our hospitals guide covers SickKids' founding story. Decades later, the same institution produced one of the most significant discoveries in the history of human genetics.

A gene found through international collaboration

On May 9, 1989, a team led by Dr. Lap-Chee Tsui at SickKids — working alongside SickKids colleagues Dr. John R. Riordan, Dr. Manuel Buchwald and Dr. Johanna Rommens, plus Dr. Francis Collins at the University of Michigan — identified the specific gene and protein responsible for cystic fibrosis, a hereditary disease affecting the lungs, pancreas and other organs.

Published simultaneously, announced together

Three papers documenting the discovery were published together in Science on September 8, 1989. Tsui and Collins held simultaneous press conferences announcing the breakthrough, naming the newly identified gene's protein the cystic fibrosis transmembrane conductance regulator (CFTR) — a name still used in cystic fibrosis research and treatment today.

Why it mattered

The discovery has been repeatedly described as one of the most significant achievements in the history of human genetics, opening the door to genetic testing, a far deeper understanding of the disease's biology, and eventually the targeted CFTR-modulator drugs that have transformed cystic fibrosis treatment in the decades since.

Sources

• SickKids — Discovery of the Cystic Fibrosis Gene
• The Canadian Encyclopedia — Lap-Chee Tsui