Dr. Tony Pawson received international recognition for discovering how cells communicate with each other. His groundbreaking work in cell signaling is likely to make laboratory studies of cancers and other human diseases, and assessment of new drugs to target them, more accurate.
By studying the nematode worm C. elegans, Dr. Joe Culotti and his team were the first to identify specific nerve guidance molecules that help form the basic framework of the nervous system. The isolation of these genes provided a shortcut to the isolation of similar genes in humans. Dr. Culotti’s body of research has had significant implications for the development of new treatments for spinal cord injury.
Dr. Katherine Siminovitch, an investigator in the molecular genetics of rheumatic and autoimmune diseases, discovered a genetic marker for a fatal condition called Wiskott-Aldrich syndrome. As a result, genetic counsellors from across North America began contacting Mount Sinai for help in prenatal diagnosis of the disorder.
Dr. Jim Dennis
made a major advance in the pursuit to understand cancer metastases and the relationship to a high level of carbohydrates on the surface of cancer cells. His group found that a combination of swainsonine (a chemotherapy drug) and interferon could help block the growth of solid tumours. Then in 2007, Dr. Dennis reported a new role for sugar metabolism in the modification of proteins on the cell surface. These findings provide an important mechanism of adaptation at the cell surface, and may lead to treatments for cancer, diabetes and autoimmune disease.
Drs. Mark Redston, Hilmi Ozcelik and Steven Gallinger discovered an increased incidence of the BRCA2 gene mutation in the Ashkenazi (Eastern European) Jewish pancreatic cancer population. The discovery led to improved and earlier diagnosis of pancreatic cancer among this population.
Drs. Isabella Caniggia and Stephen Lye made a significant advance in our understanding of preeclampsia, the major cause of death in pregnant women. They discovered that a biochemical factor, called TGFb 3, remains elevated in preeclamptic pregnancies. Recently, Dr. Caniggia licensed her biomarker findings to help develop a diagnostic tool that will detect and manage preeclampsia in expectant mothers over the next five years. Dr. Lye has also developed a diagnostic test – pilot tested and now part of a larger study – to distinguish false labour from preterm labour.
Dr. Bernard Zinman and his team discovered that diabetic First Nation adults have a high frequency of a mutation in the HNF1 gene, called G319S. The mutation was discovered in Sandy Lake natives in Northern Ontario, a community in which about 25% of residents have diabetes.
Dr. John Kingdom developed a ‘placenta clinic’ in the fetal medicine unit for the assessment of women with placental complications of pregnancy. This provided a bench-to-bedside link to the laboratory program of research in development and fetal health at the Lunenfeld, where Dr. Kingdom has laboratory research space with Dr. Stephen Lye.
Dr. Steve Gallinger identified a genetic variation associated with colorectal cancer—the first genetic predictor associated with common forms of colorectal cancer and a tool for future screening methods. Recently, his group also played a key role in an international team that identified four new genes associated with increased risk for colorectal cancer.
Dr. Andras Nagy developed Canada’s first two human embryonic stem cell lines. Then in 2009, he reported a new method of creating stem cellsthat could lead to possible cures for devastating diseases including spinal cord injury, macular degeneration, diabetes and Parkinson’s disease.
Dr. Jim Woodgett discovered a ‘genetic roadblock’ that could lead to novel treatments for type 2 diabetes. In the study, Dr. Woodgett and his team found the first genetic evidence that the elimination of the gene for glycogen synthase kinase-3α (GSK-3α) in mice sensitizes the animals to insulin. This research advances scientists’ understanding of how the complex mechanisms activated by insulin work.
Dr. Daniel Drucker reported that a new once-weekly treatment for type 2 diabetes could replace the more common twice-daily injection.
Dr. Jeff Wrana pioneered the DyNeMo technique to help scientists assess patients’ prognosis in breast cancer and help determine optimal treatment. In a study published by Nature Biotechnology, Dr. Wrana and his team unveiled the tool, and explained that it can predict with more than 80 per cent accuracy a patient’s chance of recovering from breast cancer.
Dr. Dan Durocher and his team discovered that a gene known as RNF168 is mutated in the RIDDLE syndrome, a rare and genetic immunodeficiency disorder characterized by developmental abnormalities and sensitivity to radiation. The findings were published in Cell, and have enabled more effective diagnoses of this disease.
Dr. Sabine Cordes and her team were the first to identify Polycomb Response Elements (PREs, or short regions of DNA that switch genes on or off) in mammals. The finding may lead to new insights into diseases such as schizophrenia and cancer.