Research at the Montreal Children's Hospital (MCH) the McGill University Health Centre (MUHC) is at the forefront of scientific knowledge, innovation and technology.
Leading-edge researchers, pioneering work and the advancement of medical wisdom have made the MCH an important and dynamic key player on the international stage.
“Our Research Institute's driving force and mission is dedicated to the development and discovery of treatment and cures of childhood diseases,” says Dr. Jacquetta Trasler, Scientific Director at the Montreal Children's Hospital and Associate Director of Pediatric Research at the Research Institute of the McGill University Health Centre. “Our clinical investigators and scientists are committed to better understanding the underlying causes of diseases in children, finding cures for these diseases and discovering ways to prevent them from happening in the future.”
The Research Institute at the Montreal Children's Hospital was formally established in 1966, partnering with McGill University, with the goal of facilitating and promoting excellence in child health research. In 2000, the institute joined other research centres at McGill University, and the Research Institute of the McGill University Health Centre was created.
Bench To Bedside Research
Today, the Montreal Children's Hospital is pushing the boundaries of research in such fields as genetics, growth and development, cancer, endocrine and renal disease, neuroscience and cardio-respiratory health. Other critical areas of research include musculoskeletal disorders, psychosocial problems, infection and immunity. Research activity is conducted at the Montreal Children's Hospital and two satellite facilities within a block of the hospital.
All research activities are effectively linked to the clinical programs of the MCH, ensuring that patients are able to benefit directly from the latest research-based knowledge and treatments.
“Ours is a long history of excellence in genetics, the study of growth and development and in evaluative research,” explains Dr. Trasler. “We have a very cohesive, collaborative group of both clinicians and scientists who work together making it easier for us to go between what happens at the bench and what happens at the bedside and then back again.”
The Montreal Children's Hospital has over 100 clinical and basic scientists, 50 of whom hold grants from peer-reviewed agencies including the Canadian Institutes of Health Research, the National Cancer Institute of Canada, the Fonds de la recherche en santé du Quebec, the U.S. National Institutes of Health and the International Juvenile Diabetes Foundation. There are also over 80 research assistants and 106 graduate students and research fellows.
New Research Facility
A $100 million grant from the Canada Foundation for Innovation (CFI) awarded to the Research Institute of the MUHC and McGill University will make way for a
state-of-the-art medical research centre on the grounds of the MUHC's new Glen Campus facilities. “It is the largest infrastructure grant ever given by the CFI in Canada and the largest ever given at McGill University,” says Dr. Trasler.
The new Research Institute of the MUHC will house some of the most advanced scientific facilities, equipment and technology. It will bring together researchers in both pediatric and adult medicine. The venture will promote discoveries that will yield new treatments and cures for patients of all ages. The CFI grant will allow the MUHC to bring investigators together and will assure the bridging of biomedical research and clinical medicine, says Dr. Arthur T. Porter, Director General and Chief Executive Officer of the McGill University Health Centre (MUHC). The new Research Institute will include the Centre for Innovative Medicine and Centre for Translational Biology and Evaluative Research.
“The MCH will have this unprecedented opportunity to be able to follow people throughout their lifespan, from the prenatal period all the way to adulthood,” adds Dr. Trasler. “Our researchers and scientists will focus on how diseases begin and how we can prevent them by changing events early in life.”
Dr. Trasler says that one of the reasons their CFI application was so successful was because of the directed and unwavering work of their team of investigators. “These are world-class investigators whose achievements are making important discoveries and inroads in childhood diseases.”
Researchers Behind Recent Discoveries At The MCH
Dr. Constantin Polychronakos
Director of Pediatric Endocrinology
Endocrinology, Diabetes, Nutrition and Kidney Diseases Axis
Career Scientist Award of Excellence 2008 – Foundation of Stars
Genetic Causes Of Diabetes
Dr. Constantin Polychronakos conducts an internationally recognized research program that focuses on understanding and unravelling the genetic basis of diabetes. In 2007, in collaboration with the Children's Hospital of Philadelphia, Dr. Polychronakos detected a new gene, the fifth one, responsible for Type 1 diabetes. “We believe there are approximately 15 genes involved in insulin-dependent diabetes,” he explains.
“Our study proved that high-density DNA microchips are effective and we hope to use them to identify all of these genes in the near future.” To date, his research has resulted in the discovery of seven new genes related to both Type 1 and Type 2 diabetes and two publications in the journal Nature. One of these publications placed fifth world-wide in 2007 for the most cited scientific article. The discovery of these genes will help in the detection of high diabetes risk, prevention and personalizing treatment based on the individual's genetic profile,” adds Dr. Polychronakos.
Dr. Eric Fombonne
Director, Department of Psychiatry MCH
Mental Illness and Addiction Axis
Recipient of the Canada Research Chair in Child Psychiatry
Autism
Dr. Eric Fombonne's research has ruled out childhood immunizations as a risk factor for autism. In 2004, he published a study in the Lancet that disproved the connection between autism and the MMR (Mumps, Measles, Rubella) vaccine. His findings dispelled the controversial belief that mercury is a key factor in the onset of autism. His work has alleviated concerns over childhood thimerosal-containing vaccines.
Dr. Fombonne has also demonstrated the effectiveness of social skills training groups for autistic adolescents (The Journal of Autism and Developmental Disorders, November 2007). “This study shows that the social and interpersonal skills of autistic adolescents can be improved, and we established that our method is efficient and does not require significant resources,” says Dr. Fombonne.
He is now involved in a multi-site consortium study aimed at searching for the genetic causes of autism. The Simons Simplex Collection (SSC) is a coordinated effort to create a database of genetic and behavioural information about cases where there is only one family member with autism. The study is expected to lead to the discovery of new genetic factors that increase the risk of autism.
Dr. Catherine Limperopoulos
Neurosciences Axis
Recipient of the Canada Research Chair in Brain and Development
Premature Birth And Autism
Dr. Catherine Limperopoulos initiated and led a study suggesting premature babies might be at more of an increased risk of developing autism than originally thought. The study (Pediatrics, April 2008) found that 25 per cent of babies born very prematurely showed a high prevalence of autistic behaviour in early screening.
The study involved 91 children who were born at least ten weeks prematurely. Follow-up testing will be done in order to determine how many of these children will actually be diagnosed with autism. It has been shown that early diagnosis and intervention results in improved outcomes for autistic children.
Dr. Michael Kramer
Health Outcomes Axis
Prix Leo-Pariseau 2008
Breastfeeding and IQ
The Prix Leo-Pariseau 2008 was awarded to Dr. Michael Kramer for his epidemiologic research on pregnancy outcomes and child health. His most significant project, the Promotion of Breastfeeding Intervention Trial (PROBIT), is a large cluster-randomized trial of a breastfeeding promotion intervention that was initiated in Belarus in the 1990s.
The randomized design permits strong causal inferences about the effects of prolonged and exclusive breastfeeding on the short and long-term health and development of the children. He and his colleagues have continued following the PROBIT cohort, who are now 11-12 years old. A recent analysis based on follow-up of nearly 14,000 of the children reported higher IQ (intelligence quotient) and improved teacher ratings of academic performance in children randomized to the intervention, but no protection against the development of asthma or allergies.
Dr. Robert Koenekoop
Director of the McGill Ocular Genetics Laboratory -MUHC
Division Head of Pediatric Ophthalmology Montreal Children`s Hospital-MUHC
Medical Genetics and Genomics Axis
Leber Congenital Amaurosis
Dr. Robert Koenekoop actively collaborates with the University of Nijmegen in the Netherlands, and using a novel technology (homozygosity mapping by SNP arrays) recently discovered three new genes responsible for Leber Congenital Amaurosis (LCA)—the most common cause of congenital blindness in infants and children—and two new genes for Retinitis Pigmentosa (RP)—the most common cause of hereditary blindness in adults.
In 2006, this international research team, which includes Dr. Irma Lopez, also from McGill, identified the gene CEP290, the most common genetic cause of LCA (American Journal of Human Genetics, September 2006). This gene is mutated in over 20 per cent of children and allows researchers to establish the genetic basis for hereditary blindness in up to 75 per cent of patients. By identifying CEP290, the team was able to identify two other new genes, namely LCA5 and then LCA3 (Nature Genetics June 2007). “These discoveries have the potential to fast-track a cure for this disease,” says lead investigator Dr. Robert Koenekoop.
“Our main research goal is to identify all the genes responsible for congenital blindness in children and then study them so that we can then use gene therapy and gene replacement to rescue their vision.” Leber Congenital Amaurosis is a complex form of retinitis pigmentosa found in children. The disorder affects about one in 30,000 newborns and about 200,000 children around the world.
Dr. Nada Jabado
Medical Genetics and Genomics Axis
Brain Tumours
Dr. Nada Jabado is focusing her research on pediatric astrocytomas which are the most common pediatric brain tumour. Brain tumours are the largest group of solid neoplasms in children and are currently the leading cause of cancer-related mortality and morbidity in the pediatric years.
Dr. Jabado's premise is that these tumours possess unique molecular signatures and need investigating independently from adult astrocytomas, to provide a rational framework for the development of effective interventions. The main objective of her research is to achieve a better understanding of the molecular events and pathways responsible for the formation and progression of these brain tumors. Results will provide insight into the genetic pathways involved in their initiation and progression.
Findings so far are offering possibilities of more efficient interventional therapies which may result in improving the outcome of children with this type of brain cancer.
Source: The Montreal Children's Hospital Resource Guide 2009