2011 Champions of Genetics Grant Recipients

2011 Champions of Genetics


Dr. Brenda Gallie

Dr. Brenda Gallie is currently a Professor in the Departments of Medical Biophysics, Molecular and Medical Genetics, and Ophthalmology at the University of Toronto and the Hospital for Sick Children, Dr. Gallie is also a Senior Scientist in the Division of Applied Molecular Oncology at the Ontario Cancer Institute at Princess Margaret Hospital. Her research and clinical practice is focused on retinoblastoma. Her pioneering work has contributed to fundamental understanding of cancer development, and provided affordable genetic tests that save eyes and vision while eliminating unaffected infants from invasive surveillance procedures. She is Director of the Hospital for Sick Children’s Retinoblastoma Program, a collaborative team whose novel therapies have improved vision-saving opportunities for children with bilateral disease, while avoiding the risks associated with traditional radiotherapy. Frustrated by high mortality rates in resource-limited counties, and the clinical research challenges posed by this rare cancer, Brenda co-founded Daisy’s Eye Cancer Fund to help step up action for children with retinoblastoma around the world. She enthusiastically serves as the Fund’s International Medical Director, transferring her extensive knowledge, expertise and innovation in the pursuit of optimal care for all affected children.


Dr. Philippe Gros

Dr. Philippe Gros is a Professor of biochemistry and Director of the Complex Traits Program at McGill University. His seminal discoveries have advanced knowledge in three key biomedical areas: the molecular biology of multi-drug resistance; the genetic analysis of neurodevelopment defects (e.g., spina bifid a and anencephaly); and the host genetics of infectious diseases (e.g., tuberculosis, malaria, and salmonella). Not only has he pioneered the strategic approach to identifying genetic mutations in the fields of infection, cancer, and neurogenesis, he has also provided essential knowledge about disease pathways, as well as models for much of the way modern molecular genetics is approached. His work on multi-drug resistance genes has expanded the understanding of drug resistance in cancer and infectious diseases, pointing the way to more effective drug treatments of common human diseases. Dr. Gros has over three hundred heavily cited papers to his credit. He has received numerous awards for his work, including the Wilder Penfield Prize for Health Sciences (Prix du Quebec) and the Canada Council Killam Prize for Health Research. He is a Fellow of the Royal Society of Canada (2003) and a Distinguished Investigator of the CIHR. Dr. Gros is also the Founder of Phagetech, RGS Genome and Emerillon Therapeutics.


Dr. Michael Hayden

Dr. Hayden is a Killam Professor of Medical Genetics, Canada Research Chair in Human Genetics and Molecular Medicine, and Director of the Centre for Molecular Medicine and Therapeutics at the University of British Columbia. He earned his medical degree and PhD in genetics from the University of Cape Town in South Africa and completed his post-doctoral training at Harvard Medical School. Dr. Hayden focuses his research primarily on genetic diseases, including genetics of lipoprotein disorders, Huntington disease, predictive and personalized medicine. Over the course of his career, he has received numerous honours, including the Order of British Columbia, 2007 Prix Galien Canada (Research), the 2003 Henry Friesen Award of the Royal College of Physicians and Surgeons of Canada and the 2001 Award of Excellence of the Genetics Society of Canada. He was made a member of the Order of Canada in 2010. He has authored more than 400 peer-reviewed publications and co-founded three biotechnology companies.


Dr. Robert Korneluk

Dr Robert Korneluk is Director of the Solange Gauthier Karsh Laboratory and Director of the Apoptosis Research Centre at the Children's Hospital of Eastern Ontario and a Professor in both the Department of Paediatrics and the Department of Biochemistry, Microbiology and Immunology in the Faculty of Medicine at the University of Ottawa. He obtained his Ph.D. in developmental biology from the University of Toronto in 1982, and trained from 1982 to 1985 as an MRC post-doctoral fellow in molecular genetics at the Hospital for Sick Children, Research Institute in Toronto. He is a Howard Hughes Medical Institute (HHMI) International Research Scholar, a Fellow of the Royal Society of Canada (FRSC) and a Distinguished Professor of the University of Ottawa. His research focuses on the modulation of programmed cell death (apoptosis) for therapeutic benefit in disease including myotonic dystrophy, retinal eye disease, diabetes, neurodegeneration and cancer. Dr. Korneluk, along with Dr. Alex MacKenzie, are co-founders of the biotech company Aegera Therapeutics Inc., a drug discovery company whose mission is to identify compounds that will modulate apoptosis and have utility in neurodegeneration and cancer.


Dr Roderick R. McInnes

Dr Roderick R. McInnes is the Director of the Lady Davis Institute of the Jewish General Hospital, Canada Research Chair in Neurogenetics, and Professor of Genetics and of Biochemistry at McGill University, where he has succeeded Charles Scriver as the Alva Chair in Human Genetics. Dr. McInnes received his undergraduate and medical degrees from Dalhousie University, and his Ph.D. from McGill. Previously he was the Head of the Program in Developmental Biology at the Research Institute of the Hospital for Sick Children, an International Research Scholar of the Howard Hughes Medical Institute and, from 2000-2010, the inaugural Scientific Director of the Institute of Genetics of CIHR. He has made important contributions to the understanding of the molecular basis of retinal and eye development, and to the identification of genes and processes associated with inherited retinal degenerations. Recently, he has made important discoveries in an inherited learning defect in mice. Amongst other honours, Dr. McInnes is a Fellow of the Royal Society of Canada and the Canadian Academy of Health Sciences. He was appointed to the Order of Ontario in 2008, and a member of the Order of Canada in 2009. In 2010, Dr. McInnes was the President of the American Society of Human Genetics.

2011 CHAMPIONS OF GENETICS GRANT RECIPIENTS

The following grant recipients were nominated by a Champion of Genetics in 2011. 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.

Helen Dimaris

Dr. Helen Dimaras, PhD, completed her doctoral degree in the Department of Molecular and Medical Genetics at the University of Toronto. Her thesis work focused on the molecular genetic development of childhood eye cancer, retinoblastoma. After completing her degree, Helen was struck by the fact that her research only reached a minority of the world’s affected children, while the reality for the majority was suboptimal care. She pursued post-doctoral training in clinical trials and global retinoblastoma research. She coordinates the Multicenter Trial of the “Toronto Protocol” for treatment of bilateral retinoblastoma, currently active in Toronto, Vancouver, Montreal, Singapore and India. She is a member of the Steering Committee that produced the Canadian National Retinoblastoma Guidelines for Care, a document that is useful not only in Canadian practice but also to other nations wishing to form a Retinoblastoma Strategy. Through her involvement with Daisy's Eye Cancer Fund, Helen works with the Kenyan National Retinoblastoma Strategy to bring sustainable, evidence-based care for retinoblastoma to East Africa. She is also a sessional lecturer at the University of Toronto, where she teaches courses in Global Health Research and Genetics in the Department of Human Biology.


RESEARCH PROJECT:
Personal Tumor Biomarkers for Surveillance of Disseminated Retinoblastoma (project details)

"Helen demonstrates outstanding capacity in scientific excellence and leadership in delivery and discovery in global genetics," Champion, Dr Brenda Galle

Dr. Helen Dimaras' Project:
Personal Tumor Biomarkers for Surveillance of Disseminated Retinoblastoma

The study of retinoblastoma, the prototypic genetic cancer, has contributed much to the field of genetics and cancer. The objectives of this research program are to bring high-level science to the treatment and care of children with the genetic cancer retinoblastoma. The standard practice for surveillance of metastatic disease is cytological detection. Such technology is also used to ensure that residual disease is minimal, with hope of cure, before embarking on a morbid procedure such as bone marrow or peripheral hematopoietic stem cell transplant. The pilot study showed that using personalized biomarkers identified in the tumour of the patient could detect evidence of disseminated disease before standard cytology. The scientific approach of this project is to study patient- and tumor-specific biomarkers to molecularly screen for emergence of metastasis and/or minimal residual disease (MRD) (evidence of remaining disseminated cancer during or after treatment). Molecular detection of MRD was demonstrated in a small cohort of patients at The Hospital for Sick Children. This research would build on that with an international, multi centre clinical study of molecular MRD detection for retinoblastoma, led by the Canadian team.


Dr. Nada Jabado

Dr Nada Jabado is an Associate Professor in the Department of Pediatrics and an Associate member of the Department of Human Genetics, The Goodman Cancer Centre and the Division of Experimental Medicine at McGill University. Her research focuses on uncovering genetic defects in inherited disorders affecting the immune system and on pediatric astrocytomas, the most common group of pediatric brain tumours. Inborn errors affecting the immune system have high morbidity and mortality in children. The main objective is to identify causative genes, explore their function and provide patients and families with improved diagnostic tools and management of these often lethal defects. Brain tumours are currently the leading cause of cancer-related mortality and morbidity in the pediatric years. The main objective of this part of her research is to identify genetic defects in these brain tumours and achieve a better understanding of the molecular events and pathways responsible for their formation and progression. Her goal is the identification of novel therapeutic targets and their efficient transfer from bench to bedside ultimately tailoring treatment to the tumor biology.


RESEARCH PROJECT:
Uncovering genetic defects in Primary Immune Deficiencies (project details)

"Nada is extremely energetic and truly dedicated. She not only works hard, but is also very imaginative, creative and is not afraid to make bold decisions about research directions," Champion, Dr. Philippe Gros

Dr. Nada Jabado's Project:
Uncovering Genetic Defects in Primary Immune Deficiencies

Single-gene disorders, while individually rare, have, in aggregate, an enormous impact on the well- being of Canadian families; however the majority of the estimated 10,000 genes causing these conditions remain unknown. Primary immune deficiencies (PIDs) affect the immune system and the capacity to fight even simple infections. While the overall survival has improved over the last 3 decades, a considerable proportion remains incurable, or can only be cured with treatments that leave patients with life-long disabilities. Patients are born with their disease and significant challenges remain, starting with the identification of the factor (gene) responsible for a given PID. Through an international collaborative network, Dr. Jabado’s team recruited 32 patients and families with PIDs of unknown genetic origin. Disease manifestation and pedigrees have been characterized and indicate the presence of at least 20 distinct genetic disorders. They are using a powerful, leading edge ``next generation sequencing`` technology to rapidly scan the DNA of the entire human exome (where genes are present in our genome) to uncover the defects (genetic abnormalities) that are driving disease manifestations. The discovery of genetic defects will enable us to learn about gene function and how these genes regulate our immune system. In the longer term, the results will lead to improved survival and reduced morbidity for patients, as they could promote the development of new drugs, and offer the potential for tailored therapies, in a field where limited therapeutic options exist.


Dr. Colin Ross

Dr Colin Ross is an Assistant Professor in the Department of Pediatrics at the University of British Columbia at the Centre for Molecular Medicine and Therapeutics (CMMT) and the Child and Family Research Institute (CFRI) at the BC Children’s Hospital in Vancouver. Colin is married to,Sandon, and has two boys, Kieran and Rowan. Following graduate training in medical genetics in the U.K. with Prof. Tom Strachan and at McMaster University with Dr. Patricia Chang, Colin pursued a research fellowship with Dr. Michael Hayden to develop a novel gene therapy for Lipoprotein Lipase Deficiency, which is now completing phase III clinical trials in Canada. Together with Dr. Michael Hayden and Dr. Bruce Carleton, Colin helped found the Canadian Pharmacogenomics Network for Drug Safety (CPNDS), a nation-wide network to study the genetics of severe adverse drug reactions. The goal of CPNDS is to prevent severe ADRs by identifying those patients at greatest risk of an ADR before the drug is administered.


RESEARCH PROJECT:
Drug Safety Pharmacogenetics Evaluation (SAPHE) Initiative
“Safe and effective drug therapy for each and every child.” (project details)

"Dr. Ross's personal leadership qualities and research abilities have been critical in helping to establish a unique Canada-wide network of collaborative scientists and clinicians aimed at preventing serious ADRs” Champion: Dr Michael Hayden

Dr. Colin Ross' Project:
Drug Safety Pharmacogenetics Evaluation (SAPHE) Initiative
“Safe and effective drug therapy for each and every child.”

The debilitating and lethal consequences of severe adverse drug reactions (ADRs) are a striking failure of modern medicine. The consequences for patients who experience severe ADRs are often catastrophic. In Canada, severe ADRs claim thousands of  lives each year and cause many more lifelong disabilities. Removing medications from the market is not the solution because this leaves patients without effective therapies. Children are at greater risk than adults for severe ADRs, and the high rate of morbidity and mortality due to ADRs is readily evident. In the treatment of pediatric cancer, 40% of patients suffer severe permanently disabling, life threatening, or lethal ADRs; and ADRs alone account for 22% of all pediatric oncology patient admissions into hospital.

An individual’s susceptibility to an ADR is often determined by their genetic makeup. Building upon our identification of novel pharmacogenetic susceptibility variants for codeine-induced mortality, cisplatin-induced deafness, and anthracycline-induced heart failure, the objective of this program will be to demonstrate the benefits of predicting in whom the genetic risk of a severe ADR is greatest. This initiative will bring together clinicians with leadership roles and an accredited clinical genetics laboratory to implement a pilot individualized medicine program to reduce drug toxicity and improve the lives of children in Canada.