Champions of Genetics
Recognition, Encouragement and Support
Our mission is to advance cures for inherited diseases by investing in the best and brightest Canadian researchers. In 2010 we revised our research grant policy to better reflect this mission, and to provide support where it is most needed: with younger scientists working hard to establish themselves and have an impact on the way genetic diseases will be treated in the future. CGCF also wanted to honour those senior scientists, ‘Champions of Genetics’, who have dedicated themselves to making the key discoveries that has put Canada firmly on the global scientific map. The Champions of Genetics Programme includes both an award and a grant component that together will provide much deserved recognition, encouragement and support to Canada’s research community.
The first phase of recognition in the program identifies and honours Canada’s long established scientists, our Champions of Genetics. The Canadian Gene Cure Foundation’s Board of Directors is responsible for developing the criteria on how these esteemed few are chosen, criteria that will vary in focus from year to year.
2013 Champions of Genetics
Dr. Bartha Maria Knoppers
Bartha Maria Knoppers is a lawyer, Canada's leading bioethicist, and a world authority on the ethical aspects of genetics, genomics and biotechnology. Dr. Knoppers founded the international Population Project in Genomics and Society (P3G) with the goal of coordinating international efforts and expertise in the policy area of genomics and the impact on human health. She also launched the CARTaGENE bio-bank project in Québec. Through CARTaGENE, scientists collect socio-demographic and medical data from across the province and bank it for future research.
Dr. Knoppers's career in genetics and ethics reaches back to the 1990s when she served on the International Bioethics Committee of UNESCO, the United Nations organization that drafted the Universal Declaration on the Human Genome and Human Rights. Since then she has played key roles in Genome Canada, Génome Québec and the Canadian Stem Cell Network.
Currently Dr. Knoppers holds the Canada Research Chair in Law and Medicine at McGill University and she is the director of the Centre of Genomics and Policy, Faculty of Medicine, Department of Human Genetics. Along with a host of other honours, Dr. Knoppers is also chair of the Ethics Working Party of the International Stem Cell Forum, the co-chair of the Sampling/ELSI Committee of the 1000 Genomes Project, and a member of the Scientific Steering Committee of the International Cancer Genome Consortium.
Dr. Alex MacKenzie
Alex MacKenzie is principal investigator of the Apoptosis Research Centre at the Children's Hospital of Eastern Ontario and a professor in the Department of Pediatrics at the University of Ottawa. Dr. MacKenzie and his team have focused their research on inherited disorders and orphan diseases in children, identifying gene subsets for three disorders - Duchenne muscular dystrophy, myotonic dystrophy, and spinal muscular atrophy (SMA). Dr. MacKenzie is a specialist in the field of SMA, a fatal neurodegenerative disease that often ends lives before age two. Along with a number of other honours and responsibilities, Dr. MacKenzie is co-chair of FightSMA’s Scientific Advisory Committee, an international nonprofit organization working to find a cure for SMA.
Recently named a principal investigator in a new national initiative, Care for Rare, Dr. MacKenzie will help direct a team of researchers using next generation technology to hunt for the causes and treatment of rare health disorders. Dr. MacKenzie has published extensively in the areas of molecular genetics of pediatric disease. The work he and his colleagues have done on SMA is also applicable to other diseases, such as myotonic dystrophy, leading to effective therapy for this more common form of muscular dystrophy.
Dr. Steven Narod
Steven Narod is the director of the Familial Breast Cancer Research Unit at Women's College Hospital at the University of Toronto. He is a co-discoverer of the BRCA1 and BRCA2 genes, first identified in 1994 and 1995, and since then he has studied the distribution of mutations worldwide. Dr. Narod’s team has identified founder mutations in the Ashkenazi-Jewish, French-Canadian, and Bahamian populations. He directs one of the largest international longitudinal studies with a database of over 13,000 women who carry a BRCA1 or BRCA2 mutation.
Professor at the Dalla Lana School of Public Health at the University of Toronto, Dr. Narod holds cross appointments with the Departments of Medicine, Surgery, Pathology and Obstetrics and Gynecology.
Dr. Narod has studied hereditary breast cancer since 1987, first at the International Agency for Research in Cancer in Lyon France with Dr. Gilbert Lenoir. He returned to Canada in 1995 to McGill University, studying and working with Dr. David Rosenblatt. Dr. Narod has advanced cancer genetics around the world through collaboration with experts in over 30 countries. His research has been instrumental in understanding the role of hereditary factors in breast and ovarian cancer, and he continues to translate the emerging knowledge into more effective strategies for cancer prevention, detection and management. He has published over 300 papers on BRCA1 and BRCA2. In 2012, Dr. Narod was elected a Fellow of the Royal Society of Canada.
Dr. Alexey Pshezhetsky
Alexey Pshezhetsky is a professor in the Departments of Pediatrics and Biochemistry, University of Montréal, and is affiliated with the Department of Anatomy and Cell Biology at McGill University. Since 1998 he has been the scientific director of Medical Genetics Diagnostic Laboratory and director of the lysosomal biology lab at Ste-Justine Hospital Research Center.
Dr. Pshezhetsky’s lab has made important contributions to the discovery of genes mutated in lysosomal storage diseases, hereditary conditions found in children. (Tay-Sachs is probably the most well known lysosomal storage disease.) His lab was the first to clone the gene for sialidosis, a disease that affects newborns and leads to a range of symptoms including tremors, vision problems, and seizures.
A graduate of Moscow State University’s chemistry program, Dr. Pshezhetsky went on to obtain a PhD in chemical kinetics and catalysis at the same university. He began studying genetic diseases caused by deficiencies of lysosomal enzymes as a researcher at Moscow State University and Moscow Institute of Medical and Biological Chemistry. He joined the faculty at the University of Montréal in 1993.
The research of Dr. Pshezhetsky has been acknowledged by multiple national and international agencies including the Canadian Institute of Health Research, Canadian Foundation for Innovation, Genome Canada, Génome Québec, March of Dimes Foundation, Canadian Diabetes Foundation, Vaincre les Maladies Lysosomales and others.
Dr. David S. Rosenblatt
David S. Rosenblatt is a world leader in multiple facets of human genetics, including research, clinical practice, and education. As a professor of Human Genetics, Medicine, Pediatrics, and Biology at McGill University in Montréal, Dr. Rosenblatt has made major contributions to genetics research, adding to our knowledge of inherited metabolic diseases. As chair of the university's Department of Human Genetics for the past 11 years, Dr. Rosenblatt has built an outstanding department that has achieved international prominence for research as well as the education of basic and clinical scientists, clinical and laboratory geneticists, and genetic counsellors.
Since 2000, he and his collaborators have identified the genes for five disorders, leading to a more complete understanding of vitamin metabolism and better approaches to detect carriers and diagnose these disorders. Dr. Rosenblatt directs one of only two referral laboratories in the world for patients born with metabolic diseases related to folic acid and VitaminB12.
Dr. Rosenblatt has served as President of the Society for Inherited Metabolic Disorders, the Canadian Society for Clinical Investigation, and the Association of Medical Geneticists of Quebec. He is a Fellow of the Canadian Academy of Health Sciences and a Correspondant étranger of the Académie Nationale de Médecine of France.
2012 CHAMPIONS OF GENETICS
2011 CHAMPIONS OF GENETICS
2013 Champions of Genetics Grant Recipients
The following grant recipients were nominated by a Champion of Genetics in 2013. These recipients demonstrate excellent leadership potential, have experience running their own independent laboratory at a Canadian research institute and are on the path to becoming the next generation of Canada's most respected senior scientists.
The criteria for the projects the nominees put forth demonstrated excellent science and have therapeutic potential in the near future.
Dr. Joanne Kotsopoulos
Joanne Kotsopoulos’s research aims to improve our understanding of breast and ovarian cancer development, specifically focusing on prevention and improved survival rates. She received her PhD from the Department of Nutritional Sciences, University of Toronto (U of T) and conducted her post-doctoral research training at the Brigham and Women’s Hospital/Harvard Medical School. She is currently a scientist with the Familial Breast Cancer Research Unit at the Women’s College Research Institute, Women’s College Hospital and an Assistant Professor at the Dalla Lana School of Public Health and Department of Nutritional Sciences, U of T. She is the recipient of a Cancer Care Ontario Research Chair in Population Studies. Dr. Kotsopoulos explores the role of diet and lifestyle, as well as their interactions with genetic variation, in the causes of breast and ovarian cancer both in high-risk populations and in the general population. As a member of the Familial Breast Cancer Research Unit, she is leading a research program to identify dietary or lifestyle factors in the prevention of breast and/or ovarian cancer in BRCA mutation carriers as well as in women with a strong family history of breast cancer but no genetic predisposition.
RESEARCH PROJECT:
Folate and Breast Cancer in BRCA1/BRCA2 Mutation Carriers (project details)
Dr. Joanne Kotsopoulos’s Project:
Folate and Breast Cancer in BRCA1/BRCA2 Mutation Carriers
Women who inherit one of two genetic mutations — BRCA1 or BRCA2 — are at high risk for developing breast cancer. Without the mutation, women have a 12 percent breast cancer risk, but for women with the mutation, that number soars to 80 percent. Inheriting either mutation also raises the risk of ovarian cancer. Medical options usually focus on surgery and/or chemotherapy. This project explores the role diet plays in women who have inherited a BRCA mutation. More recently, there is evidence that high levels of folate may actually increase cancer risk. This is of particular importance among women at an increased risk of developing breast cancer. Dr. Kotsopoulos’s goal is to figure out if folate — a B vitamin— increases or decreases the risk of breast cancer in these high-risk women. Her team will measure folate levels in blood samples and assess the use of multivitamins and/or supplements with folic acid in 1,500 women with either mutation. By following up on study participants, the researchers can evaluate whether levels of folate affect the women’s breast cancer risk. In many countries, folate has been added to enriched flour, pasta, and cornmeal to guard against insufficiencies in the population that lead to higher incidences of birth defects. In addition, women of child-bearing years are counselled to take prenatal supplements that are high in folic acid. Ultimately, the goal is to offer data to support the development of practical and safe prevention interventions, leading to a decrease in the number of breast cancer cases and deaths attributed to a BRCA mutation.
Dr. Jordan Lerner-Ellis
Jordan Lerner-Ellis’s core interest is in molecular diagnostics as applied to breast and colon cancer. His research is focused on improving genetic testing through greater reliance on new sequencing technologies. While completing his PhD in human genetics at McGill University, Dr. Lerner-Ellis discovered or co-discovered four genes that cause inborn errors of Vitamin B12 metabolism when mutated. He continued his studies at the Children’s Hospital in Basel, Switzerland before moving on to a postdoctoral fellowship in Molecular Biology at Harvard University, the Massachusetts General Hospital, and in Medical and Population Genetics at the Broad Institute. Following his postdoctoral studies, Dr. Lerner-Ellis completed the Clinical Molecular Genetics training program at Harvard Medical School, and is certified as a diplomate of the American Board of Medical Genetics. He currently serves as Head of Advanced Molecular Diagnostics at Toronto’s Mount Sinai Hospital. His laboratory provides clinical diagnostic services for hereditary breast, ovarian and colon cancer, and other genetic testing areas, for downtown Toronto and for the province of Ontario. He holds the position of Assistant Professor in the University of Toronto’s Department of Laboratory Medicine and Pathobiology and is an Associate at the Ontario Institute for Cancer Research.
RESEARCH PROJECT:
Using Exome Sequencing to Identify the Genetic Basis of Familial Colorectal Cancer Type X (FCCTX) (project details)
Dr. Jordan Lerner-Ellis's Project:
Using Exome Sequencing to Identify the Genetic Basis of Familial Colorectal Cancer Type X (FCCTX)
Colorectal cancer (CRC) is the third most commonly diagnosed cancer in the world. In Canada in 2012, it’s estimated that 9,200 deaths will be attributed to CRC. While 20 percent of these cancers are inherited, half of the families who meet the criteria of having an inherited type show no identifiable mutations. These families have a condition called FCCTX, a poorly understood genetic phenomenon. In Dr. Lerner-Ellis’s lab, the majority of CRC patients have tested negative for known CRC-related genes, yet these patients have clear evidence of an inherited disease. Dr. Lerner-Ellis’s study aims to analyze the entire DNA coding portion of the genome in these patients. Called exome sequencing, it is more affordable than genome sequencing and one of the most promising ways of bringing genomics into the clinic. Dr. Lerner-Ellis’s lab will conduct exome sequencing on 50 families with this condition to find the genetic basis for the disease. The benefits are two-fold: first, identifying novel genes could lead to novel treatments or allow clinicians to re-assess already existing treatments for patients with this kind of cancer. Preliminary data has already pointed to some promising candidate genes. Second, the exome sequencing will add to the growing body of knowledge and utility around this sequencing technique.
Dr. Faraz Farooq
Faraz Farooq has worked in the areas related to neurodegenerative diseases, molecular and cell biology and drug development where he had the opportunity to develop experience in conducting multi-disciplinary research and building collaborative networks with scientific leaders internationally. Dr. Farooq received a B.Sc. in Biology/Biotechnology and a Ph.D. for his work on Spinal Muscular Atrophy (SMA, a neurodegenerative disease which is the most common genetic cause of infant death and is currently untreatable) at the University of Ottawa. Through the research he conducted under Dr. Alex MacKenzie’s supervision he was able to demonstrate a clear promise for repurposing drugs (which are safe and have FDA approved status) to develop novel therapeutic strategies for SMA treatment. His work identified STAT5 and p38 activating compounds (prolactin and celecoxib) as potential candidates for SMA therapeutics. Currently Dr. Farooq is a Scientist at the Children Hospital of Eastern Ontario (CHEO) Research Institute, running the SMA therapy program. Along with colleagues at CHEO, he is working to design clinical trials for SMA with celecoxib, a drug that already has approval from Health Canada. He is also focusing his research to identify other STAT5 and p38 pathway activators as new candidates for SMA treatment. His research activities are expanding in the area of other rare and neuro-muscular diseases. The World Muscle Society recently honoured him with The Léa Rose Spinal Muscular Atrophy Award for best presentation on Spinal Muscular Atrophy at its international congress in Australia this past October.
RESEARCH PROJECT:
Preclinical assessment of clinic-ready compounds for the treatment of Spinal Muscular Atrophy (project details)
Dr. Faraz Farooq's Project:
Preclinical assessment of clinic-ready compounds for the treatment of Spinal Muscular Atrophy
In Spinal Muscular Atrophy or SMA, motor neurons (the nerve cells which carry impulses from the brain and spinal cord to our muscular system) die off, resulting in generalized weakness and respiratory failure. SMA is one of the most common inherited causes of infant death with an incidence of 1 in 11,000 live births. Although a gene called SMN1 is usually deleted in SMA, there is a second almost identical gene present in all infants and children with SMA. This gene makes lower levels of the protein which when missing causes SMA; the ability to turn up this second gene to make more of the missing protein has become a goal of Dr. Farooq’s laboratory. They have identified drugs in use in the clinic today, which have been shown to produce more functional protein in nerve cell culture. Dr. Farooq would now like to test the drugs in mice, both normal and mice with SMA, to establish whether what has been observed in the cultured cells holds true in living organisms. If the effect is observed in the mouse study it would suggest that his team should move directly to human clinical trials. The advantage of assessing drugs, which are in clinical use, is that they shall be able take this step quite quickly.
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