After a stroke, 80 per cent of people have long term difficulty using the arm and hand on one side of their body. This can lead to a loss of independence and a decrease in quality of life. Most rehabilitation of the arm and hand after a stroke takes place in hospital; however, while recent research indicates that approximately one hour a day of arm therapy is needed to improve the arm’s ability to be useful in daily activities, the time currently spent on arm-specific treatment is only 20 to 30 minutes. Jocelyn Harris is studying the implementation of an in-patient exercise homework program that increases the amount of arm therapy a patient performs in hospital. Taught by a therapist, the homework exercises are done for one hour a day, five days a week, for four weeks. Before starting the program and at the conclusion of the four weeks, patients participate in tests to measure hand strength, arm and hand movement, and the ability of the arm and hand to participate in day-to-day activities. This study will determine if increasing the amount of arm therapy time increases the ability to use the arm among stroke patients. An increase in ability can ultimately contribute to improved independence, continued community living, better health and enhanced life satisfaction among people who have had a stroke.
Program: Trainee
What Causes Parkinson's Disease? An Epidemiologic Analysis of Occupational Exposures
An estimated 100,000 Canadians have Parkinson’s disease, a neurodegenerative disorder that affects the body and brain, causing tremors, stiffness and impaired mobility. Dopamine is a chemical produced in the brain to carry signals between nerves. Parkinson’s develops when cells that produce dopamine die. Researchers have yet to determine what triggers the onset of Parkinson’s. Although a small proportion of cases seem to run in families, research indicates the explanation may lie in individual environmental and lifestyle exposures. For example, workplace exposure to chemicals such as pesticides, heavy metals and solvents may increase the risk of developing Parkinson’s. In one of the largest studies to examine Parkinson’s disease, Anne Harris is investigating whether exposure to the “whole-body vibration” workers can experience operating heavy machinery also elevates risk. Previous studies have shown that traumatic head injury from boxing and other activities can damage the part of the brain that produces signals crucial to mobility and brain function. Harris wants to determine whether the accumulation of smaller injuries over time from whole-body vibration also damages this part of the brain. Her findings could lead to new methods for preventing and treating Parkinson’s disease.
Safety of home birth: Consequences of hemorrhage in home birth
The safety of home birth for women at no identifiable risk is a controversial issue. Approximately 40 per cent of women accessing midwives in BC choose to give birth at home. If there is an emergency related to birth, access to definitive care can be delayed by geography, weather and timing of labour. Severe hemorrhage (bleeding) during childbirth is a clinical emergency that requires immediate invasive interventions by specialized health professionals. It is one of the top three leading causes of death among mothers. Survivors are at risk of developing kidney damage, surgical removal of the uterus and adverse events associated with blood transfusions. But little is known about the consequences of hemorrhage in home birth. Eman Hassan is researching the risk of developing serious consequences following hemorrhage in the home birth setting. She is comparing rates of unfavourable events that occurred due to hemorrhage among planned home births and planned hospital births in the period 2002-2004. The study will provide important information to practicing midwives and childbearing women about what may contribute to hemorrhage, who is at greater risk of developing these events, and the factors that may affect timely access to specialized care. This information will help prevent serious health problems among women considering home birth in BC, and will also be applicable to other provinces in Canada.
Genetic and epigenetic studies of innate immunity related genes in the development of asthma in childhood: the role of airway epithelial cells
Asthma is the most common chronic disease in children. It affects eight to 10 per cent of the population in developed countries, and rates are increasing. Susceptibility to asthma and other allergic diseases runs in families, which indicates that genes influence its development. However, numerous studies examining the influence of changes in the genetic code have led to inconsistent results. A possible explanation for the inconsistency is a failure to account for epigenetics. This emerging field of study involves investigating the basis of inherited traits that affect how genes function without affecting the sequence of the underlying genetic code. The airway lining cells, or epithelium, are a promising cell type in which to identify novel mechanisms of asthma. Jian-Qing He is studying cultured airway epithelial cells from 150 asthmatic and non-asthmatic children to explore whether a combination of genetic and epigenetic changes in immunity-related genes are central to the development of childhood asthma. Results from this study will allow for a better understanding of how genetic and epigenetic differences in epithelial cells are related to the development of asthma. Potentially, such knowledge could contribute to the development of more effective methods of screening for susceptibility to asthma and better preventive strategies.
The excitatory and inhibitory synaptic balance in neurodevelopmental disorders: the role of neuroligins
Neurodevelopmental disorders result from gaps, delays or variations in the way a child’s brain develops, often interfering with learning, behaviour and adaptability. Research has shown that neurodevelopmental disorders have a strong genetic basis, yet the genes involved have not been clearly identified. The onset of disorders such as autism, fragile-x and Rett syndrome occurs after neurons have developed, during the time connections between neurons (synapses) are being formed to facilitate transmission of signals from one neuron to another. These disorders may, therefore, result from altered synapse formation and maintenance. Some of the genes thought to be associated with these disorders produce proteins involved in synapse formation and maintenance. Alterations in the size, form and structure of synaptic components have been demonstrated in fragile-x syndrome, Rett syndrome and autistic spectrum disorders. This suggests that these diseases are associated with abnormal or halted synaptic development and maturation. Building on her MSFHR-funded Master’s research, Rochelle Hines is studying specific proteins involved in synapse formation and maintenance to assess whether and how they contribute to the development of neurodevelopmental disorders.
The medical management of human intersex: An evaluation of parent-clinician communication about treatment options
The surgical and hormonal management of intersexed children is a much more common component of pediatric care in Canada than many people realize. Intersex conditions, where noticeably atypical genitalia is deemed to require intervention, occurs in about 1:2000 live births. In the international context, driven by an increasingly well-organized coalition of intersexed people, the potentially harmful effects of these medical interventions are being debated. Proponents of standard treatment protocols justify genital surgeries with an in-the-best-interest-of-the-child rationale, claiming that to leave a child’s body in a state of sex ambiguity would inevitably lead to psychological harm and sexual maladjustment. Yet, no long-term follow up studies have been conducted to substantiate this claim. The delivery of current medical services is not structured in ways that allow for follow-up with intersexed adults, and much of the evidence from intersexed people themselves suggests that, in the long-term, the best interests of intersexed children are not protected. Many grow into adulthood feeling stigmatized and traumatized, and are left in both physiological and psychological pain by their years of medical treatment. Rodney Hunt is conducting a detailed qualitative study of parent-clinician communication to gain insight into the ways in which the current medical management of intersexed children is taken up or contested in a clinical setting. He aims to achieve a deeper understanding of the institutional and social factors that influence parent-clinician communication and decision-making when treatment options are discussed. Ultimately, Rodney’s goal is to advance current theoretical understandings of sex and gender in medicine and health policy frameworks, and to provide a valuable evidentiary base for diverse stakeholders, including clinicians, social scientists, health policy makers, intersex support groups, women’s health advocates, and those most directly affected, intersexed people and their families.
Elucidating the function of Bardet-Biedl Syndrome (BBS) proteins in Intraflagellar Transport (IFT)
Cilia are fine, hairlike projections that protrude from most cells of the human body. Many of these cilia perform sensory roles such as detecting light, sensing temperature and perceiving smell. Dysfunction of cilia is implicated in a number of conditions, most notably polycystic kidney disease. The less common Bardet-Biedl Syndrome (BBS) reflects the effects of complete loss of cilia function throughout the body. Patients with this condition suffer from obesity, polydactyly (more than 20 fingers/toes), cystic kidneys, infertility and many other conditions. Analysis of cilia structures in a tiny worm called nematode Caenorhabditis elegans has provided tremendous insight into the function of BBS proteins. Research has revealed that BBS proteins are involved in the process of intraflagellar transport (IFT), the dynamic mechanism through which cilia are built and maintained. An absence of BBS proteins appears to impair cilia function, apparently by causing the IFT machinery to split apart, although other deficiencies are highly likely. Peter Inglis has developed a new approach in studying the interaction of BBS proteins within the IFT complex, focusing on how BBS proteins are involved in the rearrangement of core IFT proteins. He will dissect BBS function and assemble a general model for the role of BBS proteins in IFT. Ultimately, his work promises to shed significant light on a cellular mechanism implicated in a wide variety of human disorders.
Person Perception in Individuals with Autism Spectrum Disorders
Autism has increased 700 per cent in the last decade. The developmental disorder is characterized by severe difficulties with social interaction and communication, an extremely limited range of activities and interests, and often by the presence of repetitive behaviors. A recent study showed autism spectrum disorders (ASD) are the most costly of all childhood disorders in terms of prevalence, outcome, response to treatment, economic cost and family stress. The ability to recognize and understand the constantly-fluctuating emotional expressions of the human face and their associated mental states usually develops in the first year of life. Research has shown that these abilities are seriously impaired in individuals with autism. The causes of this impairment are not yet understood, and although researchers have put forward a variety of explanations, there has been no definitive answer. Based on her past research, Lisa Jefferies is implementing a new approach to the study of person perception in individuals with low to severe autism spectrum disorder and a milder variant known as Asperger’s Syndrome. Jefferies’ approach is based on computer-generated, human-like “”talking heads”” that allow each component of an expression to be controlled and manipulated independently. She aims to use this tool to understand the root of face-perception deficits in children with autism. Jefferies also believes the talking heads will provide an ideal format for an intervention technique, as they could be programmed to focus on critical combinations of facial actions. Her ultimate goal is to develop new knowledge that will contribute to the design of more effective intervention and training to improve the social intelligence of individuals diagnosed with ASD.
Quantitative Three-Dimensional Assessment of Bone and Cartilage in Osteoarthritic and Normal Knees Using Novel Imaging Methods and Mechanical Indentation Testing
Osteoarthritis (OA) is a painful, debilitating disease affecting approximately three million Canadians, most commonly at the knee. In addition to joint cartilage damage, the disease is also marked by changes in the underlying bone. It has been suggested that changes in bone stiffness, thickness and density influence and accelerate the breakdown of cartilage and the development of OA. In order to verify this (i.e. understand when during the disease process these changes occur and assess their impact on the timing and extent of damage to the bone or cartilage) there is an urgent need to develop a tool that can reliably assess bone and cartilage simultaneously. The aim of James Johnston’s research is to understand early onset and progression of osteoarthritis and to develop diagnostic tools for its early detection. Johnston has already developed a novel method of matching bone to cartilage that can be used to assess cartilage and underlying bone simultaneously in any joint. He is now working on a method to investigate relationships between bone (thickness, density) and cartilage (thickness, biochemistry) using magnetic resonance imaging (MRI), computed tomography (CT) and three-dimensional assessments. He will then link information gained through these imaging methods with physical stiffness measures to determine how these properties are affected at early and late stages of OA, compared to healthy subjects. This research will improve understanding of how OA develops, and contribute to the development of methods for the early detection and treatment of the disease.
Estimating current and future direct medical costs associated with HIV/AIDS in British Columbia using an integrated model of clinical disease history and population transmission dynamics
HIV/AIDS continues to be a major health issue in Canada, twenty-five years after the first cases were reported. About 58,000 Canadians, including 13,000 BC residents, are infected with HIV (the human immunodeficiency virus that leads to AIDS), and the incidence appears to be rising. A rough estimate sets the medical costs of caring for people with HIV/AIDS at more than $800 million a year. But rapid treatment advances make medical costs a moving target. Karissa Johnston is using the computer simulation model she developed in her earlier MSFHR-funded research to more accurately estimate the annual and lifetime medical costs of treating people infected with HIV. Johnston has designed a series of modules to measure the amount of HIV virus in peoples’ bloodstream (called the viral load) over their lifetime, their initiation and adherence to antiretroviral medications, their use of health services, and their survival time with different treatment regimes. As new treatments or data become available, individual modules can be updated without affecting the others. This information can help health care providers assess the costs and effectiveness of different treatment options. For example, antiretroviral medications successfully suppress viral load, reducing the risk of passing the infection during a sexual encounter. Even though the medications are costly, this tool will show if they ultimately result in costs savings due to a reduction in new infections.