Lap-Chee Tsui is most recognized for leading the team that, in 1989, found the gene responsible for cystic fibrosis (called CFTR, for cystic fibrosis transmembrane regulator gene). The large team involved the laboratories at Toronto's Hospital for Sick Children of Tsui, Jack Riordan, and Manuel Buchwald, and spanned the border to the University of Michigan laboratory of Francis Collins (now Director of the National Human Genome Research Institute of NIH). By today's perspective, reports of gene discovery may seem so commonplace as to be taken for granted; however, this discovery was noteworthy for two reasons. It was the first success of the approach known as positional cloning, meaning that it was found, not because of any clues about its function, but merely by knowing its location and a little about its genetic neighbors. Second, cystic fibrosis is the most common single-gene disease among Caucasians, with symptoms usually starting in childhood, which are eventually fatal. Much anticipation awaited this particular discovery, and it had its share of international competition in the process.
Tsui evolved gradually into his genetics career. With a significant artistic bent and inclination to precision and detail, he aspired to be an architect, but was assigned to study biology during his early years at the Chinese University of Hong Kong. He moved to the U.S. to finish a Ph.D. at the University of Pittsburgh, to Tennessee to the Oak Ridge National Laboratory, and then in 1981 to the Hospital for Sick Children for postdoctoral work, where he was soon offered a staff position. Tsui's career continued to flourish; he holds the Sellers Chair of Cystic Fibrosis Research, and in 1996 he became the hospital's Geneticist-in-Chief. Tsui is a Professor of Molecular and Medical Genetics at the University of Toronto.
In his research endeavors, Tsui has not rested on his laurels. Immediately after the discovery of CFTR, he moved on to establish an international consortium of CF researchers and an organized mechanism to report and disseminate information about the hundreds of different mutations that would be found in the CFTR gene. His laboratory went on to make significant contributions to the mapping and cloning of other genes on chromosome seven, to knowledge of the structure-function relationships between mutant and normal versions of CFTR, and to the understanding of other genes that interact with CFTR and influence the phenotype of cystic fibrosis. His generosity in the support of students, postdoctoral fellows and charitable causes is widely recognized by all who know him.
In the international sphere, Tsui has also been generous of his time and expertise. He travels around the world many times each year in support of universities, research institutes and programs, and causes, including in Europe and Asia. For 2000-2001, he is president of the international Human Genome Organization (HUGO). On the national scene, was a founder of the Canadian Genetic Disease Network, and he lead the formation of Canada's funding organization for genomics research, now known as Genome Canada. Tsui oversees the development of The Center for Applied Genomics in Toronto.
Tsui's contribution to science, to his adopted country, and to international relations have all been appropriately recognized by awards far too numerous to list. Letters following his name indicate that he is an Officer of the Order of Canada, a Fellow of the Royal Society of Canada and a Fellow of the Royal Society of London. His other major awards include the Gairdner International Award, the Franklin Institute Cresson Medal, the Canadian Medical Association Medal of Honor, the Medical Research Council of Canada's Distinguished Scientist Award and the Paul di Sant'Agnese Distinguished Scientific Achievement Award of the Cystic Fibrosis Foundation. He has several honorary degrees.
Tsui's architectural talent has not been wasted. In 1989, as the team of scientists struggled to interpret the information revealed by sequence of the CFTR gene, he created the conceptual drawings of the protein structure that would soon be seen around the world as the discovery was revealed.
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