Principal Investigator Dan Durocher and two research trainees found a gene that works as a guide for the protein called BRCA1. It repairs damaged DNA known to cause breast cancer and is responsible for five to 10 per cent of all breast and ovarian cancer cases. Understanding how healthy cells detect and repair damage to their DNA will reveal important insights into what goes wrong in cells that become cancerous. Moreover, discoveries related to DNA damage will open the door to new, more sophisticated treatments for the disease: rendering cancer cells more vulnerable to chemotherapy, for example, or developing drugs that can more selectively target cancerous cells.

Dr. Steven Gallinger was part of an international team that made headlines for their groundbreaking colon cancer finding. The group of scientists from Ontario, Newfoundland, Seattle, Scotland and France discovered a specific variation on chromosome 8 that is associated with colon cancer. The new breakthrough has the potential to change how people are screened for the disease.

Dr. Rayjean Hung recently made headlines for her role in an international study that uncovered, for the first time, an important genetic region associated with lung cancer risk. Dr. Hung was first author of a paper published in the most prestigious scientific journal Nature demonstrating that chromosome 15 is associated with lung cancer, and providing new clues on how smoking tobacco can cause this cancer. Lung cancer is the most common cause of cancer death worldwide, with more than 1 million cases diagnosed annually. It is also the most preventable, since, according to the World Health Organization, tobacco smoking is responsible for around 90% of all cases. The disease affects 20,000 Canadian lives annually and 80% of lung cancer patients die within five years. Assessing the impact of genetic variants on smoking-related diseases is important for public health and understanding gene-environment interactions. 

A study by Dr. Andrea Jurisicova, Canada Research Chair in Molecular and Reproductive Medicine and Associate Scientist at the Lunenfeld, revealed that pre-conception exposure to environmental pollutants (commonly found in cigarette smoke) diminishes the fertility of mothers’ future offspring. The study, published in the December 3, 2007 issue of The Journal of Clinical Investigation, provides evidence derived from a mouse model that exposure to the compounds called polycyclic aromatic hydrocarbons (PAHs) prior to conceiving and when lactating reduces the number of eggs in the ovaries of female offspring by two-thirds. PAHs are known carcinogens and one of the most widespread organic pollutants. The compounds are found in cigarette smoke, car exhaust, fumes from wood stoves, and in charred and smoked foods.

Dr. John Kingdom, Maternal-Fetal Medicine Specialist at Mount Sinai Hospital, and his team discovered that a simple non-invasive, real-time ultrasound exam of a woman’s placenta can help determine if she will have a healthy pregnancy. The study, published in the March issue of the American Journal of Obstetrics and Gynecology, shows that women with thin, long and healthy placentas can expect their babies to develop without any major complications, even if the mother has a low level of blood flow to the fetus.

Dr. Katrina MacAulay paved the way toward new treatments for Type 2 diabetes when she discovered a ‘genetic roadblock’ that could lead to potential treatments. She and a team of researchers, led by Dr. Jim Woodgett at the Samuel Lunenfeld Research Institute of Mount Sinai Hospital, made the significant breakthrough. The study, co-authored by Dr. MacAulay and Dr. Bradley Doble, appears on the cover of the October 3 issue of Cell Metabolism. The researchers found the first genetic evidence that the elimination of the gene for glycogen synthase kinase-3 (GSK-3) in mice sensitizes the animals to insulin, a hormone that helps control sugar levels in the blood. By eliminating GSK-3, the mouse models were better able to respond to insulin. With this research, another piece in the puzzle has been put in place, says Dr. Diane T. Finegood, Scientific Director of the CIHR-Institute of Nutrition, Metabolism and Diabetes. “It advances our understanding of how the complex mechanisms activated by insulin work. Understanding the details of this picture is central to developing new drugs that can help people with diabetes control their blood sugar.”

Neurobiologist Dr. John Roder, along with colleagues in Toronto, Scotland and Japan, demonstrated for the first time that schizophrenia can be caused by a malfunctioning gene. Furthermore, their study offered evidence that schizophrenia, depression, and bi-polar disorder are caused by different types of damage to the same gene, suggesting that the three disorders have the same underlying genetic cause. Published in 2007, this important breakthrough received considerable media attention, including the front page of The Globe and Mail.

Dr. Sue Quaggin has discovered a gene critical for the development of the kidneys, heart and lungs, and is using it to study kidney development, in particular microscopic kidney filters, called glomeruli which remove waste and excess fluids from the blood. Dr. Quaggin’s research is focused on glomerulosclerosis – irreparable scarring of these filters that can lead to kidney failure. She believes a better understanding of this process will be critical in the prevention and development of new treatments for kidney disease. Dr. Quaggin’s recent discovery of a link between the cancer drug Avastin and kidney damage received widespread coverage. In a study published in the New England Journal of Medicine, she showed that one of the drug’s side effects, excess protein in the urine, was caused by inhibiting growth of blood vessels in the kidney. Awareness of this complication will assist physicians to better monitor patients taking the drug.