Cystic fibrosis (CF) is a severe genetic disorder caused by one gene: the cystic fibrosis transmembrane regulator gene (CFTR). Inheriting the gene from both parents leads to CF. People with CF experience chronic respiratory infections that cause lung damage and ultimately lead to lung failure and death. Lung damage in CF is not fully understood and cannot be completely explained by the CFTR gene defect. There are considerable differences in the severity and progression of lung disease, for example, among patients with the same mutation in the CF gene. Some may require lung transplantation by their teenage years, while others may not experience severe lung disease until adulthood. Daisy Frangolias is looking specifically at two types of genes: ones that are involved in fighting lung infections, and those that are involved in initiating and controlling the inflammatory response to the bacteria that cause lung infections. Her findings will increase the understanding of the relationship between the CF gene disorder and other genes in defining the long-term progression of CF, and may provide therapeutic targets for reducing lung damage.
Year: 2002
Role of lipid rafts in AMPA receptor trafficking and synaptic plasticity
Brain cells communicate with one another by releasing chemical transmitters, which bind to receptors on the surface of neighbouring cells and cause them to become excited (switched on). One of the most important transmitters is glutamate, which plays a key role in learning and memory. However, the presence of too much glutamate in the brain (such as during a stroke) can lead to brain cell death. Dr. Changiz Taghibiglou is studying how lipid structures on the surface of brain cells – known as rafts – affect how glutamate is transmitted between cells. Floating on the cell membrane, lipid rafts contain channels and receptors that transmit brain cell signals. By conducting experiments that alter the composition of lipid rafts, Changiz hopes to better understand the role of lipid rafts in glutamate transmission and suggest possible ways to modulate the function of glutamate receptors and prevent cell death.
Improving patient safety: Costs and effects count
Health economist Dr. Rebecca Warburton is analyzing the costs and effects of interventions to reduce the accidental harm caused by health care. Her research aims to provide a rational basis for establishing priorities among policies and programs for reducing errors. The US Institute of Medicine’s estimate that 44,000 to 98,000 Americans die every year as a result of preventable hospital mistakes has raised public awareness of errors in health care and focused attention on reducing risks and harm to patients. However, most Canadian hospitals are overwhelmed by the number of safety improvements suggested by experts or demanded by regulatory bodies. Limited resources, and lack of information about the likely costs and benefits of proposed changes, means that few safety strategies are actually implemented, and most changes are not well evaluated. Dr. Warburton’s research, conducted in partnership with the Vancouver Island Health Authority, compares the costs of patient safety improvements with the outcomes in terms of standard units such as life-years or quality-adjusted life years gained. Before joining the University of Victoria in 1999, Dr. Warburton spent 11 years in policy and research positions with the BC Ministry of Health. She is currently assessing the effectiveness of BC’s Premium Assistance Program, which subsidizes medical premiums for low-income residents, and assisting in the evaluation of BC’s Clinical Practice Guidelines and Protocols.
Identification of new targets for the treatment of androgen-independent Prostate Cancer
Current treatments for advanced prostate cancer eliminate the growth-promoting effects of androgens such as testosterone. Unfortunately, while this treatment is initially effective in reducing prostate growth, the usual outcome is an untreatable form of prostate cancer where the cancer becomes androgen-independent (grows without androgens). Steven Quayle is working to isolate the different genes that are expressed (activated) at different hormonal stages of prostate cancer. He is using a technique where prostate cancer cells grown in hollow fibres progress to androgen-independence in a controlled, reproducible manner. This will allow Steven to confirm the changes in gene expression that consistently occur with disease progression, and study in more detail the role of particular genes. These genes may be useful as indicators of disease progression, as well as potential targets for treatment.
The demand for hereditary cancer services
The Hereditary Cancer Program at the BC Cancer Agency provides genetic testing and counseling services. The demand for these services in BC depends on many factors, each of which is subject to change. Factors include the growing knowledge in basic, applied and social sciences relating to hereditary cancer; the size of BC’s population and its characteristics in terms of age, ethnicity and family size; the evolving criteria by which people are deemed eligible for services; and people’s desire for these services. Through his research, Dr. Chris Bajdik is determining the demand for hereditary cancer services in BC and predicting how this demand may change in the future. He has created a computerized simulation model of the BC population, based on information about demography, cancer epidemiology and etiology, genetics, genetic technology, and human behaviour. The results from this model will help the BC Cancer Agency plan its services and assess the health benefits and costs of its Hereditary Cancer Program.
The health care experiences of mothers with serious mental illness
Almost one in five British Columbians will experience mental illness during their lifetime and nearly three per cent of the population suffers from severe and persistent mental illness. Research reveals that mothers with serious mental illness face stigma, isolation, poverty, the challenges of single parenthood, problems accessing affordable and safe housing as well as difficulty finding and keeping employment. The health care system has an important role to play in supporting mothers with serious mental illness. But little is known about the policies and services that are effective in supporting women with serious mental illness. Tasnim Nathoo is exploring the health care experiences of mothers with serious mental illness and the barriers they encounter when trying to access support. Tasnim will use this information to develop recommendations on how BC communities can better structure health services to meet the needs of mothers with mental health issues.
Effects of context on coping responses of parents in universal newborn hearing screening programs
Early identification of hearing loss in newborns is associated with improved cognitive, speech, language, and social-emotional outcomes. Yet a high proportion of parents withdraw from universal newborn hearing screening programs following the first screening, even if the screening indicates a need for further testing. This is thought to be due, in part, to parents’ anxiety and stress over the initial results. Brenda Poon is investigating how the screening program environment affects the way parents cope with the stress of discovering their newborn child may have hearing loss. Based on her findings, she hopes to recommend developing services in universal screening programs that are sensitive to parents’ emotional and coping responses at each stage of the screening. With improved services in place, parents may be less likely to withdraw their child from screening programs before the infant’s hearing status can be confirmed, allowing for earlier intervention.
Investigations of Parkinson’s Disease with quantitative high resolution PET imaging
Affecting approximately 80,000 Canadians, Parkinson's disease is characterized by the lack of the neurotransmitter dopamine in the brain. Symptoms include progressive impairment of motor function and a significant impact on quality of life. Dr. Vesna Sossi is a medical physicist who brings her expertise in the physics of nuclear imaging to advance understanding of the pathogenesis, progression and specific manifestations of Parkinson's disease, as well as the biochemical results of therapeutic interventions. Currently, she is developing a new method for using Positron Emission Tomography (PET) to study the dopaminergic system (the brain's production and use of dopamine) at varying stages of the disease. PET is a non-invasive diagnostic imaging technique for measuring the metabolic activity of cells in the human body. In addition to providing information about disease progression, this work may provide important insights into how the brain compensates for decreased dopamine levels during early stages of Parkinson's.
Identification of novel apoptosis-related genes and pathways in cancers using bioinformatics approaches
Programmed cell death occurs when cells respond to internal or external signals by initiating a process that results in their own death. While this process is necessary for the normal development of organisms, errors in the process can cause diseases such as cancer or neurodegenerative illnesses. Erin Pleasance is working to identify new genes that are expressed (activated) in programmed cell death and determine their role in diseases such as cancer. Using specialized equipment at the BC Cancer Agency’s Genome Sciences Centre, she is studying the fruit fly to find genes whose role in cell death has not yet been defined. The fruit fly is a useful model because the proteins and mechanisms involved in its cell death correspond to those in mammals and can be used to help identify cancer-causing genes in humans. Learning how to inhibit genes that prevent cell death may lead to the development of new anti-cancer drugs that stop cell growth.
Molecular characterization of the virulence protein secretion machinery of Enteropathogenic E. coli
Enteropathogenic and Enterohemorrhagic Escherichia coli are disease-causing bacteria that cause severe diarrhoeal illness and death in young children and susceptible individuals. Often associated with hamburger disease, these bacteria are extremely dangerous when consumed, secreting proteins that cause cell disruption and damage to the human digestive tract. The resurgence of these bacteria in regional and rural water supplies also poses a considerable threat to the health of populations. Dr. Nikhil Thomas is working to improve the understanding of the mechanisms these bacteria use to cause disease. He aims to identify bacterial proteins that interact with each other to cause infection in the digestive tract. By understanding the mechanisms and strategies these disease-causing bacteria use, antimicrobials and treatments can be tested, with the ultimate goal of a vaccine to prevent disease.