Child Health Investigators

Dr Gabriel Altit graduated from McGill University medical school and completed his residency in general pediatrics and neonatology at Université de Montréal – CHU Sainte-Justine. Following that, he did one year of fellowship in echocardiography and bronchopulmonary dysplasia at the Montreal Children’s Hospital – McGill University. He then completed a post-doctoral year of neonatal echocardiography research at Stanford University. He is completing a MSc in Epidemiology at McGill University. His research interest is in neonatal hemodynamics, specifically looking at deformation analysis in the context of pulmonary hypertension. Current projects are on congenital diaphragmatic population, premature newborns and the congenital cardiac defect populations. Data cumulated will be looking at advanced methods of echocardiography to quantify myocardial contractility and relaxation, as well as indices of left ventricular torsion analysis and 3D RV/LV volume and strain. Furthermore, his research focuses on end-organ perfusion assessment using near infrared spectroscopy during the stay of newborns in the neonatal intensive care unit.

Dr. Beltempo's research focuses on evaluating how the organization of work affects outcomes of infants in the neonatal intensive care unit. There are significant variations in rates of mortality and morbidity of preterm infants among neonatal intensive care units in Canada. Important contributors to these variations in outcomes include variations in practice and in the organization of the units. Using clinical and administrative databases, we are studying the effects of different healthcare delivery models, team composition and resource allocation (nurse-to-patient ratios, physician-to-patient ratios and other healthcare providers) on quality of care and efficiency in the neonatal intensive care unit. The main objective is to improve quality of care and improving efficiency in the delivery of care. Further, collaborative research with the Canadian Neonatal Network (CNN), the Evidence-based Practice for Improving Quality (EPIQ) and the Canadian Neonatal Follow Up Network (CNFUN) aim to better understand predictors of neonatal outcomes and improve quality of care of preterm infants. 

Dr Ben-Shoshan graduated from The Sackler School of Medicine, Tel-Aviv, Israel and completed his fellowship in Pediatric Allergy/Clinical Immunology at Montreal Children`s Hospital in 2009.  Dr Ben-Shoshan has been granted his Msc degree in Epidemiology in McGill in 2011.  In 2011 he was granted the Emerging Clinician Scientist fellowship award by AllerGen NCE and in 2013 the FRSQ junior 1 salary award.Dr Ben-Shoshan is currently a physician in the division of Allergy/ Immunology/ dermatology  at Montreal Children’s Hospital and is involved in research initiatives on food allergy, drug allergy, anaphylaxis, chronic urticaria , matocytosis,food desensitization  and immunodeficiency and has more than 70 publications related to these topics. He has established large cross-Canada registries related to these conditions  to collect data  that will contribute to understanding of the causes ,diagnosis and management strategies  of severe allergies.

I study neurodegenerative disorders in children with a special focus on leukodystrophies, a group of inherited white matter diseases of the brain. My research team is investigating the clinical and imaging characteristics of these diseases along with their genetic causes. Recently, my colleagues and I discovered three genes responsible for causing a relatively new form of hypomyelinating leukodystrophy called POLR3-related leukodystrophy. To build on these key findings, my laboratory is working on the identification of new forms of leukodystrophies and on characterizing the newly described POLR3-related leukodystrophy and understanding its pathophysiology. Our research program is expanding to include perspectives from the study of epidemiology, natural history, and quality-of-life impacts, with the ultimate objective of improving care for children who face the serious challenges associated with this disease group.

I am a clinical biochemical geneticist. My research program encompasses a bench-to-bedside project on disorders of peroxisome assembly and function. Peroxisomes are ubiquitous intracellular organelles and thus these are childhood multisystem disorders affecting vision, hearing, brain, liver and adrenal functions. They are progressive, so intervening early with targeted therapies could dramatically change the course of this disease. I am actively involved in the care of these patients, and we have developed the largest international natural history study. In my laboratory, we focus on translational research that can improve disease outcomes. Originally identifying PEX genes and their protein functions, we constructed novel animal models uniquely suited to study pathophysiology and treatment. We developed a successful drug screening platform in which several hit compounds and leads have now been identified, and have begun a retinal gene therapy project. All these projects involve many collaborative research efforts with academic, family foundation and industry partners- together we are stronger.

Dr. Brossard-Racine’s research program aims to understand the underlying mechanisms of function and dysfunction in children with neurodevelopmental disorders. Her research approach combines advanced quantitative Magnetic Resonance Imaging (MRI) techniques with clinically relevant standardized evaluations to promote early detection of non-optimal brain and/or functional development in at-risk pediatric populations. Central to her program is the search for biomarkers of dysfunction as well as for effective intervention strategies that will enhance brain recovery, support the child’s healthy development and inform service delivery.

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Dr. Burstein obtained his medical degree from McGill University (2010), graduating from the combined M.D/Ph.D program with a doctorate from the Department of Pharmacology and Therapeutics (2008). He completed both his residency training in General Pediatrics (2013) and his fellowship in Pediatric Emergency Medicine (2015) at the Montreal Children’s Hospital, where he is currently a Pediatric Emergency physician and Trauma Team Leader. Dr. Burstein completed a MPH degree from the Harvard TH Chan School of Public Health and was appointed as a Clinician-Scientist of the McGill University Health Centre Research Institute in 2018. His primary research interest is the management of fever in infants below 3 months of life. Fever remains among the most common reasons for presentation and hospitalization in this vulnerable population at elevated risk of life-threatening infections. The optimal management strategy for febrile young infants remains uncertain and consequently there exists significant variation in care. Dr. Burstein’s research focuses on diagnostic testing and clinical decision tools to guide management of these infants, with the aim of balancing the risk of under-diagnosis and the potential harms of over-investigation. His work in this area has received a CIHR Professional Development Grant and national awards from the Canadian Pediatric Society and the Association of Medical Microbiology and Infectious Disease of Canada.

Dr. Franco Carnevale’s research focuses on pediatric ethics. Studying ethical dilemmas in pediatric critical care in Canada, France and Italy, and moral distress in pediatrics, as well as ethical concerns regarding the care of children requiring assistive technologies (e.g., a ventilator) at home. Additional research interests include the experience of critically ill children and their families, pain and suffering in children, and methodological issues in qualitative research. We have developed an interdisciplinary research program on childhood ethics that brings together researchers from the health sciences, social sciences, childhood education and humanities. This program sensitizes health professionals to important ethical concerns regarding children and families with the aim of inspiring improvements in educational programs, policy development and clinical practice.

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Dr. Delphine Collin-Vézina is the Director of the Centre for Research on Children and Families at McGill University. She is a licensed clinical psychologist, Tier II Canada Research Chair in Child Welfare, Associate Professor in the McGill School of Social Work and recently appointed the Nicolas Steinmetz and Gilles Julien Chair in Social Pediatrics in the Department of Pediatrics. Her program of research focuses on child maltreatment, child sexual abuse, trauma, and service provision. 

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My research focuses on sleep in children. I study the effect of obstructive sleep apnea (OSA) on cardiometabolic risk, neurocognitive deficits and quality of life, as well as the impact of treatment for sleep disorders on specific health outcomes and the promotion of healthy sleep habits. I have developed a research program with interdisciplinary collaborations to explore sleep issues in children with chronic conditions, including neurodevelopmental disabilities and genetic or metabolic conditions. One current focus is the evaluation of sleep issues in children with cerebral palsy, an understudied population. One of the few clinician-scientists in pediatric sleep medicine in Canada trained in epidemiology, I have established a large longitudinal research database for our pediatric sleep laboratory – the only such cohort in the country. Our studies completed to date using this unique longitudinal cohort confirm its value as a springboard for future studies on obstructive sleep apnea and its treatment in children.

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Dr Desjardins’ research program aims to understand important events that lead to immune-related diseases in the field of allergy and clinical immunology. Dr Desjardins is recruiting a cohort of patients with Common Variable Immunodeficiency as part of the Montreal Children Hospital initiative C-PRIMES registry (The Canadian Primary Evaluative Survey). Common Variable Immunodeficiency is a defect of the immune system to produce protective antibodies to fight infections. She is addressing novel interleukin-21-related B-cell pathways to better understand these patients’ disease etiology, prognosis and to identify future therapeutic targets. She recently received the prestigious AllerGen Emerging Clinician Scientist Award.

Dr. Jessica Duby graduated from medical school at the University of Toronto and completed her pediatric residency at Cornell University/New York Presbyterian Hospital. She returned to the University of Toronto/The Hospital for Sick Children for her neonatal-perinatal fellowship as well as an academic global health fellowship. She received a Master of Public Health from the University of Waterloo. Her clinical and research interests center on improving neonatal care for under-served populations in Canada and abroad. Specifically, she focuses on understanding how initiatives by parents and lay health workers can complement the care provided by nurses and doctors in low resource settings.

Dr. Kolja Eppert’s research focuses on the fundamental biology of acute myelogenous leukemia (AML) stem cells in pediatric and adult patients. Dr. Eppert’s laboratory aims to spearhead the development of new therapeutics for childhood AML, a type of cancer in which approximately 55% of young patients still lose their battle to survive despite aggressive therapy. Dr. Eppert’s research in adult leukemia has resulted in characterization of the tightly linked biology of normal and cancerous blood stem cells, and in the development of leukemia stem cell gene signatures that predict patient survival. Dr. Eppert is now applying this unique expertise and approach to the study of pediatric leukemia.

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My research focuses on antibiotic use and infection control in pediatric intensive care units (PICUs). The majority of PICU patients receive antibiotics for suspected bacterial infections that were not definitively confirmed by laboratory tests. Because the recommendations about how long to use antibiotics in such situations are not clear, PICU physicians tend to prolong antibiotic treatment unnecessarily. This overuse of antibiotics is associated with toxicity and infections caused by antibiotic-resistant bacteria. To reduce antibiotic overuse in PICUs, I am working on the development of a tool that will indicate when it is safe to stop antibiotics in PICU patients. This involves studying how PICU physicians make decisions about antibiotic use and the ability of clinical findings and diagnostic tests to predict infection cure in PICUs. Finally, I also study the determinants of hospital-acquired infections, usually caused by antibiotic-resistant bacteria, and strategies that can be used to decrease their rates.

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Dr. Beth Foster is a pediatric nephrologist and clinical epidemiologist and an Associate Professor of Pediatrics at McGill University. Her primary research interest is in the long term outcomes of children and young adults with kidney transplants. Dr. Foster’s research focuses in particular on adolescent and young adult kidney transplant recipients, whom she has identified to be at particularly high risk of graft loss. Graft losses in this interval are often due to poor adherence to immunosuppressive medication related to developmental stage and to transfer from pediatric to adult-oriented care. Dr. Foster led a successful multi-centre randomized trial of an intervention to improve medication adherence among 11 to 24 year-old kidney transplant recipients, and is leading a follow-up study to adapt the intervention for use in clinical practice; both studies were funded by the U.S. National Institutes of Health. She also leads a Canadian national cohort study to identify care processes and structures that promote better adherence. She has also done a number of studies using large databases such as the United States Renal Data System and the Scientific Registry of Transplant Recipients.

Dr Gagnon's research program focuses on how children and adolescents function after traumatic injury as well as on how rehabilitation services can contribute to achieving the best outcomes possible. Specifically, she uses various tests for balance, motor abilities and self-confidence in order to determine whether children and adolescents are ready to return to physical activities. She has developed an innovative rehabilitation approach with children who are slow to recover after a concussion or mild traumatic brain injury. Through collaborations, she is also involved in using functional and structural imaging, psychophysics and virtual reality assessments to explore how children recover after an injury.

Dr. Jarred Garfinkle is a neonatologist with subspecialty training in neonatal neurology. After completing his medical education and Paediatric residency at McGill University, he embarked on his Neonatal-Perinatal Medicine training at University of Toronto. Thereafter, he undertook a CIHR Fellowship in Dr. Steven Miller’s lab at The Hospital for Sick Children and is completing an MSc in the Institute of Medical Science at the University of Toronto. His research focus is on preterm brain health, and specifically how the antecedents of preterm delivery and the adversities in the neonatal intensive care unit impact brain development in this vulnerable but resilient group of children.

Dr Goodyer trained in Pediatrics and Nephrology at McGill and Harvard Universities and then undertook a postdoctoral fellowship at McGill in Biochemical Genetics with Charles Scriver. In 1980, he joined the McGill Pediatric Department faculty and established a Renal-Genetics Program to advance the diagnosis and care of children with rare genetic kidney diseases. This program has contributed to the identification of genes, genotype/phenotype correlations and clinical management guidelines for more than a dozen rare diseases. He also established an independent research laboratory which has been continuously funded by the CIHR, Kidney Foundation, NIH and disease-specific foundations. His fundamental research program uses patient DNA, cell culture and mutant mouse models to understand how hereditary renal disease arises from molecular disturbances in kidney development. Current research projects include novel cell and drug therapies for cystinosis, the molecular basis of renal hypoplasia, the role of the Wilms tumour gene in kidney development and the genetic basis for accelerated diabetic nephropathy. Dr. Goodyer has worked closely with various patient advocacy groups to optimize family support and develop new therapeutic strategies for rare diseases.

My research focuses on the clinical application of new therapies and technologies in Critical Care Medicine. I am also investigating the application of simulation-based-learning in medical education with the goal of improving patient safety. My other focus involves the application of computer assisted medical decision making and automated patien-machine interfaces.

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Dr Catherine Goudie is an Assistant Professor in the Department of Pediatrics and Associate Member of the Departments of Human Genetics and Oncology. Following her pediatric hematology-oncology residency at McGill University, she completed a two-year fellowship in cancer genetics and solid tumors at the Hospital for Sick Children, Toronto. As a junior clinician-investigator in the CHHD at the RI-MUHC, she obtained her FRQS Junior 1 award in 2018. Her research program is dedicated to the study of children and families with cancer predisposition syndromes. Current projects involve the development and validation of an eHealth decision support tool, called MIPOGG, as well as studies focusing on the approach to cancer surveillance in families with cancer predisposition syndromes.

Dr. Indra R. Gupta received her medical degree from University of Alberta and then completed her pediatric residency at McMaster University.  She received her pediatric nephrology subspecialty training at the Hospital for Sick Children and then completed a research fellowship where she began her exploration of the molecular and cellular basis of congenital kidney and urinary tract disorders in children.  Her research has been funded by CIHR, the Kidney Foundation of Canada, the Fonds de recherche du Québec-Santé, the March of Dimes, and the National Science and Engineering Council of Canada.  Congenital kidney and urinary tract malformations are the most common cause of kidney failure in children resulting in a need for dialysis and transplantation.  In her research, she is focusing on understanding the mechanisms by which congenital kidney malformations arise.  Concurrently, she is examining a common defect in the ureter known as vesico-ureteric reflux in which urine flows back from the bladder to the kidneys, resulting in frequent urine infections.  Dr. Gupta is using a variety of fundamental approaches including the analysis of DNA samples from affected children to understand how these defects arise with the long-term goal to eventually identify new therapeutic possibilities.

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My research focuses on brain tumors, the leading cause of cancer-related mortality and morbidity in the pediatric years. Our main focus is pediatric and young adult astrocytomas, a deadly group of brain tumors. My group established that pediatric high-grade astrocytomas (HGA) are molecularly and genetically distinct from adult tumors. We identified a new molecular mechanism driving pediatric HGA, namely recurrent somatic driver mutations in the tail of histone 3 variants (H3.3 and H3.1). These mutations lead to aminoacid substitutions at key residues and are tightly correlated with a distinct global DNA methylation pattern, neuroanatomical and age specificities. We aim to identify events affected downstream of each mutation, and validate targets in our new models to better advise the use of experimental or pipeline drug(s) that could be rapidly translated into clinical trials.

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Dr. Michael S. Kramer is a James McGill Professor in the Departments of Pediatrics and of Epidemiology and Biostatistics at McGill University Faculty of Medicine and Director of the Centre for Outcomes Research and Evaluation at the Research Institute of the McGill University Health Centre.  He has been a National Health Research Scholar and National Health Research Scientist of Health Canada’s National Health Research and Development Program (NHRDP), a Chercheur-boursier senior (senior research scientist) of the Fonds de la recherche en santé du Québec (FRSQ), and a Distinguished Scientist of the Canadian Institutes of Health Research (CIHR).  He has been principal investigator on several large, multicentre epidemiologic studies and randomized trials in the general area of maternal and child health.  A member of four expert committees of the U.S. Institute of Medicine, in 1997-98 Dr. Kramer served as President of the Society of Pediatric and Perinatal Epidemiologic Research.  From 1995-2001, he chaired the Steering Committee of the Canadian Perinatal Surveillance System and until May 2003, chaired the Institute Advisory Board of CIHR’s Institute of Human Development and Child and Youth Health (IHDCYH).  He served as IHDCYH’s Scientific Director from 2003 to 2011.  He has received operating grant support from the Medical Research Council (now CIHR) of Canada, NHRDP, NIH, FRSQ, and the March of Dimes.  In 2011, Dr. Kramer was elected a Fellow of the Royal Society of Canada in the Life Sciences Division of the Academy of Science.  He is the 2016 recipient of the American College of Epidemiology’s Abraham Lilienfeld Award for Overall Excellence in Epidemiology.  He is currently the Director of the Centre for Outcomes Research and Evaluation at the Research Institute of the McGill University Health Centre.

Dr. Lach's program of research focuses on the quality of life of children with neurodisabilities and their caregiver (i.e. caregiver health, and parenting). Dr. Lach's current projects address social determinants of health of children with neurodisabiltiies. She is co-leading a team of researchers and trainees who are using population-based as well as administrative and clinical databases to document determinants such as income, service use, and educational outcomes. She is part of a recently funded Strategic Patient-Oriented Research (SPOR) Team entitiled CHILDBRIGHT, as co-lead of one of three themes that is evaluating five intervention/prevention approaches to supporting children with neurodisabilities and their families.

Our translational research lab is focused on immune modulation in Cystic Fibrosis and severe asthma. We study primary respiratory epithelial cells from nasal and airway brushings and macrophages from bronchiolar lavage and derived from peripheral blood monocytes. Our current work in Cystic Fibrosis investigates the response to rhinovirus, the cause of the common cold. While patients with Cystic Fibrosis do not catch more colds, these infections frequently result in a worsening of symptoms that can lead to hospitalization. We are currently examining why this occurs in Cystic Fibrosis, and how to stimulate innate antiviral responses to prevent these exacerbations. Patients with asthma also are frequently worse when they catch a cold, and again we are examining the response of asthmatic patients to rhinovirus and antiviral strategies. We are also investigating the basis for patients with severe asthma to be resistant to corticosteroids and the potential of vitamin D to reduce inflammation. Vitamin D studies to reduce inflammation are also ongoing in Cystic Fibrosis.

Other clinical research involves pulmonary function, exhaled breath condensate, and exercise studies in children with chronic respiratory disease including Cystic Fibrosis, asthma, and Sickle Cell Disease.

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Dr.Laurent Legault is a pediatric endocrinologist at the Montreal Children's Hospital and Associate Professor at McGill University. He obtained his MD (1984) degree from the Université de Montréal medical school. He completed his residency in pediatrics at Hôpital Ste Justine (1989) . Dr. Legault's research focuses on development of technology to treat diabetes, namely the development of a closed loop delivery system (aka artificial pancreas) as well as understanding the clinical burden of severe obesity in pediatrics. He has been supported by grants from CIHR, JDRF and NIH.

He has been president of the Club de recherches cliniques du Quebec (CRCQ-2008) as well as the Canadian Pediatric Endocrine Group (CPEG-2017-2019).

He is currently working on developing a fully autonomous closed loop delivery system for treating type 1 diabetes in both adults and children.

Dr. Patricia Li is a general pediatrician and clinician-scientist funded by a CIHR New Investigator Award in Community-Based Primary Health Care. Her research focuses on the organization and delivery of health services to children, including primary care and care for common childhood illnesses such as asthma, diabetes, and those related to poor nutrition (e.g. obesity). She has a CIHR- and FRQS-funded study examining the quality of primary care for children in Quebec, focusing on the disparities in socioeconomic status. Along with Dr. Evelyn Constantin, Dr. Li is leading the TARGet Kids! study in Montreal, a longitudinal cohort study that enrolls children 0-5 years old to understand health and developmental problems in the early years (http://www.targetkids.ca/). Her studies aim at working with knowledge users (such as decision makers and administrators of healthcare, as well as practicing clinicians) to influence healthcare policy and the delivery of healthcare to children.

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Dr. Macdonald, PhD, is a medical anthropologist with postdoctoral training in Pediatric Palliative Care. In addition to her appointment in the Division of Oral Health and Society, she is affiliated with the McGill Departments of Pediatrics and Oncology, and the Ingram School of Nursing and Biomedical Ethics Unit. She is also Core Faculty in the McGill Centre for Medical Education. She chairs the McGill Qualitative Health Research Group. Her main research interests include oral health in vulnerable populations, palliative care and bereavement research, cultural aspects of health and illness with Indigenous communities, and health professions education research.

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Dr. Loydie Majewska’s research focuses on identifying genes responsible for developmental syndromes that affect the face and in generating animal models that will allow investigation of the cellular and molecular basis of such developmental syndromes. Dr. Majewska laboratory is currently using next-generation sequencing to identify genes involved in VDEGS and microdeletion syndromes. To create mouse models, the laboratory performs gene targeting in embryonic stem cells to generate conditional mutations in the genes of interest. Another major focus in the laboratory is to understand the mechanisms that results in abnormal morphogenesis of the placenta, since such abnormalities can be catastrophic to the growing embryo and mother.

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Dr. Annette Majnemer is an occupational therapist with doctoral training in the neurosciences. She is currently Vice Dean – Education in the Faculty of Medicine, McGill University and is a Professor at the School of Physical & Occupational Therapy. Dr. Majnemer’s current research interests focus on intrinsic and extrinsic determinants of participation, rehabilitation service utilization patterns and knowledge translation strategies that promote best practices for children and youth with disabilities. She co-leads a bilingual website called Childhood Disability LINK that provides user-friendly information about recent research findings to families and clinicians. Dr. Majnemer is the lead of CHILD-BRIGHT, a pan-Canadian SPOR network focused on brain-based developmental disabilities.

After completing a three-year fellowship in non-invasive cardiac imaging at the Hospital for Sick Children in Toronto, Dr Mawad has gained expertise in pediatric echocardiography, fetal cardiology and cardiac magnetic resonance imaging. His research interest now lies in the study of cardiac blood flow dynamics in congenital heart disease using novel ultrasound technologies. He is in the midst of completing a PhD in medical technology at the University of Science and Technology in Trondheim, Norway.

Research interests include asthma and food allergies, which affect almost 20% of children in North America. These diseases are important causes of morbidity and mortality, and have a huge economic and social impact. My laboratory uses a combination of human studies and animal modeling to determine new ways of changing the immune response to allergens, and to help to naturally shape immune tolerance in individuals with allergies and asthma.  

My research focuses on the regulation of immunity from newborns to adult. I am testing the hypothesis that antigen stimuli early in life shape both developing and subsequent immune responses. I am defining key mechanisms responsible for directing the types of immune responses generated with a view to treating and preventing allergic disease. We have shown that early appropriate stimulation of the immune system results in prevention of allergic diseases in the airways and we are now studying this approach in the GI tract with a view to prevention and management of food allergies. Immunodeficiency: I have developed a cross-Canada registry for patients with immune deficiency and we have used this database to progress our understanding of why immunity fails in some patients and to develop standards for diagnosis and management of these patients in Canada.

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Orphan diseases affect < 1:2000 individuals. There are over 7000 rare diseases and while individually rare, they are collectively common with over 3 million Canadians affected. The impact of these diseases on patients, their families, and society is profound as many are severe, chronic and progressive, with a high demand on the health care system. As a pediatric endocrinologist and biochemical geneticist, my research interests focus on orphan therapeutics and defining relevant clinical measures. I am currently a principal investigator with t INFORM RARE which is an innovative registry-based trial network to support evidence-informed decision-making for RD therapies for children. In addition to my clinical research, my laboratory focuses on inflammatory biomarkers to further define mechanisms of disease in these rare disorders. Our current research centres on determining the role of sphingolipids in patients with both orphan diseases (e.g., mucopolysaccharidoses, peroxisomal diseases, ceramidase deficiency disorders) and more common disorders (e.g. diabetes, obesity).

Dr. Myers completed an MD and a PhD in Biomedical Engineering at the University of Calgary, graduating in 2010.  He stayed on at the Alberta Children's Hospital to complete a residency in Pediatric Neurology in 2015.  He then moved to Melbourne, Australia for a 2-year Epilepsy Fellowship where he completed a number of research projects, mostly related to epilepsy genetics.  His current research includes genetic epilepsy phenotyping, clinical trials incorporating precision medicine, epilepsy pharmacogenomics, and risk factors for sudden unexpected death in epilepsy (SUDEP).  In 2017 he received a Taking Flight Research Award from CURE (Citizens United for Research In Epilepsy).

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Type 1 diabetes is one of the most common childhood chronic diseases. Rates of type 1 diabetes are increasing in children and youth, representing a growing burden on the health care system. It is well known that good continuity of care is needed to reduce the risk of complications related to type 1 diabetes. My research program focuses on the organization and delivery of health care services to children and youth with type 1 diabetes. I am also conducting studies to better understand the transition process from pediatric to adult diabetes care. The results of my studies will aim to identify the healthcare needs of children and youth with type 1 diabetes and ultimately help to inform how best to deliver diabetes care including transition care services for young adults.

My clinical research focuses on children with motor deficits. I co-direct the Canadian Cerebral Palsy Registry, with collaborations across Canada. In addition, I conduct clinical studies in spinal muscular atrophy to improve their care.

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Following training at the Montreal Children's Hospital and Sainte-Justine Hospital, Dr. Osmanlliu joined the division of Pediatric Emergency Medicine in 2019. His research focus is on the integration of augmented intelligence tools into clinical practice. He is currently pursuing a master's in epidemiology, with a thesis on the prediction of pediatric ED crowding using machine learning. Through his work, Dr. Osmanlliu aims to contribute to the responsible integration of big data in pediatric care delivery and research. He is a member of the MCH Information Systems committee, and has contributed to a Canadian Royal College of Physicians and Surgeons roundtable on the future of digital innovation and artificial intelligence in medicine.

My research focuses on the epidemiology and diagnosis of severe viral lower respiratory tract infections requiring hospitalisation in children in Quebec and Canada.

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Dr. Platt's research focuses on biostatistics and statistical methods for pharmacoepidemiology and perinatal epidemiology. Topics of specific interest include causal inference in observational studies, particularly large pharmacoepidemiologic studies.  Dr. Platt is co-principal applicant and leader of the methods team for the Canadian Network for Observational Drug Effect Studies.

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My research focuses on the genetic factors that determine risk for type 1 diabetes (T1D). This form of diabetes starts in childhood and is caused by a malfunction of the patient's own immune system, which fails to recognise the pancreatic b-cells that make insulin as "self", attacks and destroys them. Affected children require insulin injections four times a day or more and blood sugar testing by finger-prick at least as many times. Even with the best efforts, it is not always possible to maintain acceptable blood sugars, which can cause serious complications. We are using next generation sequencing to study how the DNA of diabetic children differs from that of healthy individuals and how the immune cells that do the damage (a tiny fraction) differ from the rest of the patient's normally functioning lymphocytes. We hope that this will lead to new ways of predicting and preventing T1D.

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Dr. Janusz Rak research focuses on the role of the vasculature and blood in aggressiveness and progression of human cancers, especially in the brain, kindey and hematopoietic system. We study how angiogenic and clotting factors influence the malignant disease and how to treat tumours more effectively using agents targeting vascular abnormalities. We described cancer-induced vascular processes that are distinct in adult and children. We also focus on cancer-specific interactions between tumour cells and vascular cells by exchange of unique cellular fragments known as extracellular vesicles or exosomes, some of which contain cancer causing genes and regulatory proteins and can serve as unprecedented sources of diagnostic information in cancer. We believe that interruption of intercellular connections represents a new frontier in therapy of human malignancies.

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Dr. Rennick is a Nurse Scientist at The Montreal Children’s Hospital, and an Associate Professor in the Ingram School of Nursing and the Department of Pediatrics, Faculty of Medicine and Health Sciences, McGill University. She holds an FRQ-S Senior Clinical Research Scholar Award. Her research population includes children who have suffered severe, life-threatening illnesses and who have endured, or continue to endure, highly invasive, technological care, and their families. Her program of research focuses on three main areas: (1) Children’s psychological outcomes following childhood critical illness; (2) Enhancing patient and family-centred care for critically ill children with medical complexity; and (3) Innovations in care to promote health recovery following critical illness.

Dr. David Rosenblatt’s research focuses on the study of individuals with rare inborn errors of vitamin B12 and folate metabolism. Using cultured fibroblasts from patients with these disorders, my group has been able to work out the metabolic pathway and to discover novel genes.

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Dr. Rima Rozen’s research focuses on genetic deficiencies in the metabolism of an important vitamin, folic acid. Disturbances in the body’s handling of folic acid can lead to increased risk for a wide variety of disorders including birth defects (spina bifida or heart defects), fatty liver, colorectal cancer and brain dysfunction. My laboratory studies the mechanisms that lead to these complex traits with the aim of identification of biomarkers or novel therapeutic strategies.

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Dr. Aimee Ryan’s research focuses on the study of a family of proteins called claudins that connect cells and regulate cell shape and tissue movements required for neural tube closure and heart development. Mutations in several genes and a variety of environmental factors are known to cause birth defects. Prevention of these defects depends on identifying the molecules involved in embryonic development and understanding what they do. Critical events to determine the shape of the neural tube and heart happen three to four weeks after fertilization. One project in our laboratory is investigating how claudins distinguish the left and right sides of the embryo to appropriately position the heart. In a second project, we have shown that claudins are essential for the neural tube to close and we are now studying how they affect the intracellular mechanisms involved in this process.

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My research focuses on stroke and infectious/inflammatory aggressions occurring in the developing brain and responsible for severe handicaps, ie cerebral palsy, learning disabilities and behaviourial disorders such as autism. Through a combination of clinical and experimental approaches, our team has shown that prenatal exposure to bacterial components induces cerebral lesions, through cytokines'release, and predisposes to circulatory defects which occur immediately after birth.

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Dr. Shalish graduated from medical school at McGill University and completed his pediatric residency at the Montreal Children’s Hospital from 2008-2011. After completing his fellowship in Neonatal-Perinatal Medicine at the Hospital for Sick Children in Toronto, he returned in 2013 as physician in the division of Neonatology at the Montreal Children’s Hospital. At the same time, he has been pursuing a PhD in Experimental Medicine at McGill University, looking at the use of automated analyses of cardiorespiratory signals for the prediction of extubation readiness in extremely preterm infants. He was the recipient of the Richard and Edith Strauss Fellowship in clinical medicine from 2013 to 2015, and has been awarded the FRQS doctorate award since 2015. His research interests include weaning from mechanical ventilation, prediction of extubation readiness and biomedical signal analysis.

Dr. Shemie’s area of interest is organ replacement during critical illness. He is a pediatric critical care physician, ECMO specialist and trauma team leader at the Montreal Children’s Hospital, McGill University Health Centre. He is a Professor of Pediatrics at the Montreal Children’s Hospital, McGill University and honourary staff in the Department of Critical Care Medicine, Hospital for Sick Children, University of Toronto. He is medical advisor, deceased organ donation, with Canadian Blood Services. His academic focus is advancing the science and practice of deceased organ donation. His research interests include the clinical and policy impact of organ failure support technologies, the development and implementation of national ICU-based leading practices in organ donation and research at the intersection of end-of-life care, death determination and deceased donation.

An estimated 5%-10% of children will have a neurodevelopmental disability and my research focuses on this population. The research is at all times clinically relevant and pragmatic, seeking to improve our provision of medical care to, and our understanding of, this important segment of the pediatric population. The research undertaken is frequently inter-disciplinary, collaborative and wide ranging in nature drawing upon children typically encountered within the context of pediatric neurology practice. Aspects of this research include; a) elucidating a scientific rationale for the evaluation of childhood disability, b) defining novel childhood disability sub-types, c) identifying children at risk for neurodevelopmental sequelae and possible predictive factors, d) applying novel technologies (e.g. MRS, fMRI, array CGH) of diagnosis to further our understanding of pathogenesis, e) describing etiologies responsible for developmental disability, f) inter-relating aspects of a child’s disability profile, g) epidemiologic study of cerebral palsy through a Regional/National Registry approach, and h) ethical/historical issues related to care provision.

Dr. Myriam Srour is a pediatric neurologist and a clinician-scientist funded by CIHR and FRQS. She is the director of the Montreal Children’s Neurogenetics and Brain Malformation clinics. Her research program is focused on the study of the genetic basis of neurodevelopmental disorders, particularly structural brain malformations. Dr. Srour has identified novel causal genes in a number of rare childhood neurodevelopmental disorders such as Joubert syndrome, microphthalmia, congenital mirror movements, intellectual disability and epilepsy. Her laboratory’s current interests include (1) the study of the genetic basis of schizencephaly (a congenital brain malformation characterized by a “split” in the cerebral hemisphere) and (2) in the exploration of mosaic mutations in the pathogenesis of cortical dysplasias, the most common cause of intractable epilepsy.

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My research focuses on the promotion of healthy living and participation for children with disabilities, and connecting research findings to community and policy. I adopt an integrated Knowledge Translation approach to engage different stakeholders, including policymakers, children and their families, in finding solutions to change the environment, inform policymaking and promote participation of children with disabilities in different life roles and activities.

Dr. Jacquetta Trasler’s research focuses on how the environment, including our diets and the drugs and toxins we are exposed to, interacts with our genes to cause growth disorders and birth defects in children. Two to four percent of children are born with birth defects. In two thirds of these cases, the causes are unknown. Epigenetics, broadly defined as heritable "tags" or modifications to our genes that modulate gene expression, has been shown to play a key role in normal development in addition to genes. Epigenetic information in our genomes can help us adapt to new environments, yet when abnormal, it can contribute to disease. My laboratory uses mouse and clinical studies to determine the role of epigenetics and the environment in causing birth defects associated with the use of assisted reproductive technologies as well as the father's exposure to drugs and chemicals.

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Dr. St-Pierre obtained her Philosophiae Doctor (Ph.D.) diploma in physiology and endocrinology in 2004 from Laval University, as well as a postdoctoral medical degree in pediatrics (FRCPC) and in lipidology in 2010. In 2008, Dr. St Pierre was elected Fellow of the American Heart Association (FAHA) in recognition of her overall contribution to the international research community. She is also an international Lecturer at the National Lipid Association. Dr. St-Pierre's expertise resides essentially in the clinical management of children with familial hypercholesterolemia, pediatric obesity and/or metabolic syndrome. In 2013, she founded Clinic 180, a community-based multidisciplinary medical approach to fight the obesity epidemic among the young ones. Since 2017, Dr St-Pierre has created and lead a Quebec research initiative: The Center of excellence in pediatric obesity, networking researchers across the province. This initiative is supported by the Foundation of stars and has so far resulted in many scientific presentations, publications and new research collaborations. Her main research interests are the identification of social, ethnical and psychological determinants, both in first and second-line medical interventions, that can modify behaviors into healthy livings, as well as the identification of biomarkers that can contribute to an earlier and more effective clinical management of the pediatric obesity pandemic. Approach 180 is also an ongoing prospective study looking at the effectiveness of this community-based multidisciplinary approach in a multiethnic urban cohort of over 400 families. In 2019, she has published a Scientific Statement in Circulation Journal that was distributed all over the world focusing on cardiovascular risk reduction in high-risk pediatric patients. She is also a member of the Center of excellence in adolescent severe obesity (CEASO) at MUHC.

The NeoBrainLab is devoted to the understanding of the causes and consequences of brain and eyes damages in sick babies. The main goals of the lab are to develop innovative strategies to prevent or repair these brain and eyes damages, and thus to improve the future of these babies.

The laboratory uses both clinical research and basic science techniques to understand mechanisms underlying these brain and eyes damages. More specifically, we are studying the unique profile of brain and eyes injury in human newborns, using advanced neuroimaging techniques and bedside monitoring, as well as detailed examination of the placentas of these children, in order to identify as early as possible the babies who will develop later brain and eye damage. In parallel, we are also using a lab model of neonatal brain damage to study in more detail the brain and eyes damages and develop innovative treatments to prevent or repair these brain and eyes damages. By combining these approaches, the lab has thus the potential to develop new treatments that could lead to decrease brain and eyes damages in sick babies who will need it the most, and thus decrease the rate of permanent neurological problems in these babies, such as cerebral palsy, mental retardation, epilepsy, learning disability and blindness.

We are hoping to improve the clinical care of sick babies in the NICU and their future outcome.

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