X-linked retinoschisis is the most common form of retina damage in young males. Symptoms of the genetic disease include splitting of the retina’s inner layers, blood vessel rupturing and sometimes blindness. It is often undiagnosed or misdiagnosed due to diverse changes in the retina that can occur. Winco Wu is investigating the nature of the retinoschisin protein, produced by the gene that causes the disease. He is selectively examining mutations of retinoschisin and determining the protein’s exact size, whether it binds to other molecules, and how it interacts with other proteins and its own subunits. Improving understanding of retinoschisin will further knowledge of how retina deterioration occurs, and may ultimately lead to therapies for diseases such as X-linked retinoschisis. Learning about the protein will also shed light about proteins with similar characteristics that are involved in cancer and nervous system development.
Year: 2001
Barriers to Reproductive Health Care among Marginalized Women in Vancouver, British Columbia
Amy Weber is dedicated to pursuing a career at the forefront of infectious disease research. She’s convinced that rigorous research can create medical and social options to contain the HIV epidemic, alleviate suffering and save lives. While Weber has researched a range of populations at risk, her current work focuses on marginalized women who are increasingly vulnerable to infectious disease and poor health. Weber’s study aims to identify the barriers that marginalized women in Vancouver face in accessing health care. She’s particularly interested in researching the barriers to reproductive health care, such as services related to birth control, pre-natal care, abortion and anti-retroviral therapy for HIV-positive women. Weber believes that providing a better understanding of these barriers will help influence policy to increase access to health services and improve the health of vulnerable women.
Gene Therapy for a genetic cardiovascular disease: AAV-mediated gene transfer of a powerful, naturally occurring, LPL-S447X variant for the treatment of LPL deficiency
Dr. Colin Ross believes that studying genetics and diseases at the molecular level can open many doors for the treatment of diseases at their root causes. He’s doing exactly that in cutting edge research to develop treatments for a genetic cardiovascular disease that has the highest worldwide frequency in Canada’s French-Canadian population. People with lipoprotein lipase (LPL) deficiency are missing a key enzyme that helps break down triglycerides (fats) in the blood stream. Elevated levels of these fats can cause serious, life-threatening damage to the pancreas, heart and other organs. Ross is working on the development of gene therapy techniques to implant healthy genes into cells to restore production of the missing enzyme. He ultimately aims to develop a safe and long-term treatment for LPL deficiency.
Neurocognition, movement disorder and corticostriatal function in first-episode schizophrenia
For people living with schizophrenia, anti-psychotic medications can help control delusions and hallucinations. However, it is far more difficult to treat schizophrenia’s neurocognitive effects, such as disordered thinking and problems with memory and planning. Dr. Donna Lang is working toward uncovering the underlying causes of these devastating symptoms. Her previous research included a study comparing risperidone – a new-generation drug – to traditional anti-psychotics, in terms of how they affect deep-brain structures called the basal ganglia. Lang focused on how faulty wiring between the basal ganglia and other brain regions may be linked to neurocognitive problems in people with schizophrenia. In her current study, Lang is using tools such as Diffusion Tensor Imaging – state-of-the-art imaging technology – to learn more about brain activity in schizophrenia patients, before and after treatment. Lang hopes findings from the research will lead to more effective treatment of schizophrenia.
Dietary lipids in growth, development and health
My research focuses on the role of dietary fat in providing essential fatty acids to support growth and development, including long-term effects on children’s physical, cognitive and behavioural health. I am investigating how specific fatty acids influence brain development and nerve function, the dietary intakes needed to ensure optimal development, and the role of altered fatty acids in disorders such as liver disease and cystic fibrosis. Clinical applications of this research have ranged from developing special feeds to support optimal brain development in premature infants, to research into diets for prevention of seizures and liver damage in children with cystic fibrosis. I also head a nationally funded Nutritional Research Program exploring how our genetic makeup blends with our nutritional intake, particularly in the maternal and early childhood period, to affect our life-long susceptibility to disease. Findings will provide important new information about tailoring nutritional intake to meet individual needs in health and disease.
Genetic studies in common, complex diseases with special emphasis on Multiple Sclerosis
Multiple sclerosis (MS) is one of the most common neurological diseases, usually striking people between the ages of 20 and 40. My research focuses on understanding genetic epidemiological, molecular genetic and environmental factors that increase susceptibility for MS and other common complex diseases that begin in adulthood. As part of my work in the Canadian Project on Genetic Susceptibility to MS, a BC and Canada-wide database on MS has been established. This is the largest database of information on family histories of MS in the world. Using this information, we have shown that both hereditary and environmental factors do have a role in causing susceptibility to MS. Now we are focusing on identifying the genes and non-genetic factors responsible for MS. This research will help identify people at high risk of developing MS, and possibly contribute to treatments that slow down or prevent the onset of the disease. In addition, the results of this research are relevant for addressing other common adult onset diseases such as Alzheimer’s disease, breast cancer and diabetes.
Quality improvement of stroke surveillance, prevention and care in a sentinel health region
Stroke is the third leading cause of death in BC and the leading cause of brain disability. Stroke is also estimated to be the most expensive disease in Canada that, until recently, was considered untreatable. My research team is evaluating a three-step stroke program in the Vancouver Island Health Region to improve prevention and treatment options. The first step will be developing a surveillance system to collect information on all strokes in the region and to find people who are at high risk. Next, the project team will work on providing new tools to help patients and their doctors plan ahead and implement life style changes that will reduce stroke risk. The third component will use Stroke Victoria’s computer system as a tool for quality improvement initiatives in stroke care. The team will evaluate every stage of the project to assess the effectiveness of this approach for saving lives, improving care and reducing the costs of health care delivery. Stroke is so debilitating, complex and costly that it is worth investing in innovative approaches to prevention. We believe relevant, rapid and rigorous epidemiology is key.
Patient-focused care over time: issues related to measurement, prevalence, and strategies for improvement among patient populations in B.C.
Patients often see multiple health professionals in a variety of places for the care of their health problems. Linking care from different providers over time is challenging, with the risk that some care may be missed, duplicated or ill-timed. Concern about this fragmentation of care is growing in Canada and worldwide. Continuity of care, which is accomplished when the connections between care are seamless, is thought to improve patient outcomes, patient satisfaction with their care and physician and health providers’ satisfaction as well. I am studying the impact of continuity of care on costs and quality of care. A common way to connect care over time is to have one central person, usually a primary care physician, responsible for providing the majority of services and linking a patient to specialists. I am examining a variety of data to measure the concentration of care in this type of sustained relationship. A growing trend is team care provided at a clinic, where patients see any one of the physicians working there. My study will compare outcomes for patients who use health care teams to those who primarily see one physician, and I will look at the way walk-in clinic care affects continuity and patient outcomes. I will also examine how continuity of care affects patient health over time for people with severe and persistent mental illness, individuals with workplace injuries, and patients with HIV/AIDS.
P-glycoprotein, ABC transporters and genomics in cancer research
My research focuses on genes that play a role in the development of cancer, with a particular interest in genes that help malignant cells survive by limiting the effects of anti-cancer drugs. Our research team was the first to discover a protein (P-glycoprotein) on the surface of cancer cells that resists multiple cancer drugs. The protein protects cancer cells by pumping out drugs before they inflict lethal damage. With recent advances in genome science, the team has learned that proteins similar in structure to this one are present in more than 50 genes in the human genome. What these genes do in normal cells or in malignant ones is not yet fully understood. This is one of the questions that our team of more than 40 clinicians and scientists in the Cancer Genomics Program are working to answer. By analyzing how these genes act in normal tissue, and in cancers that are or are not responsive to drug therapy, we hope to identify markers (changes in the molecular structure or function of cells) that will be useful in diagnosing specific cancers earlier. Our goal is more effective treatment and, better still, more effective preventive measures.