The Beginning of Molecular Genetics at SickKids

Ronald Worton, former Molecular Genetics faculty

The Molecular Genetics group at the Hospital for Sick Children had its beginnings with Lou Siminovitch’s appointment in 1970 as Geneticist-in-Chief followed quickly by the appointment of Manuel Buchwald, Diane Cox and Ron Worton, followed by Roy Gravel and Rod McInnes, and later Lap-Chee Tsui who had been a postdoctoral fellow with Buchwald. The 1970’s was a time of focus on cell genetics until about 1977 when Siminovitch came back from a meeting in LA to impress on us the growing excitement with the new “recombinant DNA” technology. Within five years we all re-positioned our focus to molecular genetics, and within another five years we led the world with the identification of disease genes including Duchenne muscular dystrophy (Worton with Peter Ray, 1986), Tay-Sachs disease (Gravel, 1987), Cystic Fibrosis (Tsui, 1989), Wilson’s disease (Cox, 1991) and Fanconi anemia (Buchwald, 1992). I vividly recall “The Professor” of Genetics from Oxford making the rounds of our 11th floor labs and expressing great surprise that five scientists who had individually gained international recognition for disease gene discovery were all clustered on one small floor in a hospital-based department previously unknown except for Margaret Thompson’s classical studies in human genetics. We were seen at the time as outperforming famous hospitals and universities around the globe, including Harvard, Yale, Oxford and Cambridge. It was truly a golden era, and it lasted until we were overtaken in the mid-90s by the Human Genome Project.

Since then Rod McInnes became an international leader in the genetics of eye development and retinal degeneration, Steve Scherer and Johanna Rommens emerged out of Tsui’s group to uphold the U of T and SickKids’ international reputation in genomics and gene discovery (autism, Alzheimer’s and breast cancer), Peter Ray, following collaborations with both Siminovitch and Worton, became an international leader in DNA diagnostics, and Rosanna Weksberg emerged (after earlier graduate studies with Siminovitch and Buchwald) to become a world leader in epigenetic regulation of human development. Of the original six, Buchwald went on to be Chief of Research at SickKids, Cox to be Chair of Genetics at the University of Alberta, Gravel to be Director of Research at Montreal Children’s Hospital, Worton to be Scientific Director of the Ottawa Hospital Research Institute and head of Canada’s Stem Cell Network, Tsui to be President of the University of Hong Kong, and McInnes to be Scientific Director of the CIHR Institute of Genetics, Director of Research at the Lady Davis Research Institute at McGill and most recently Acting President of CIHR. Siminovitch, Tsui and Worton are now Laureates of the Canadian Medical Hall of Fame, and it is likely that others will follow. It is quite an amazing story.