Dyskeratosis congenita (DC) is an inherited premature-aging syndrome that typically results in bone-marrow failure. Symptoms include abnormal skin pigmentation, abnormal or absent nails and white, pre-cancerous areas on the lips and in the eyes, mouth and other body openings. More than 80% of patients with DC develop bone-marrow failure, which leads to decreased production of all types of blood cells. Premature death is usually the result of bone marrow failure. Most cases of DC are caused by changes in the DKC1 gene on the X chromosome. DKC1 encodes a protein called dyskerin, which helps maintains chromosomes, in addition to its essential function of manufacturing protein synthesis machinery. A symptom-free mother carrying a DKC1 mutation has a 50% chance of transmitting it to a son who will develop the disease.
Using genetic and biochemical techniques, Dr. Judy Wong is working to determine the mechanisms of X-linked DC. There are more than thirty amino acid mutations of the dyskerin protein that are known to be associated with X-linked DC. Understanding the molecular events that give rise to X-linked DC will help predict how patients will be affected and assist in the development of genetic therapies. Dr. Wong plans to test the effectiveness of dyskerin gene replacement techniques in restoring normal activity in X-linked DC cells. Her work will also improve our understanding of how other physiological factors can compromise normal aging.
Each year, approximately 1,500 Canadians sustain an acute traumatic spinal cord injury (SCI). Disability from an SCI results both from the initial trauma, and secondary cell damage that occurs due to pathophysiological processes after the initial SCI event. Current research suggests that neuroprotective drugs need to be administered early after injury to head off secondary cell damage, yet current diagnostics aren’t able to determine and classify the exact severity of the spinal injury within this timeframe. This makes it difficult to predict how much spontaneous recovery can be expected and which treatment strategies will improve functional recovery. Using proteomics technologies, this team is working to identify and validate biomarkers to monitor the severity of spinal cord injuries (SCI), and allow the “real time” ongoing evaluation of candidate drugs in human clinical trials.
Mycobacterium tuberculosis – the bacteria that causes tuberculosis (TB) – is the most devastating infectious agent of mortality worldwide: it is carried by one third of all humans and kills nearly two million people annually. In BC and throughout Canada, First Nations and Inuit communities are at an especially high risk, and more than 300 new or relapsed TB cases are reported each year. With the emergence of a strain that is virtually untreatable with current medicines, novel therapeutics are urgently required to target persistent bacilli and to contribute to more effective treatments of TB. This Team brings together individuals from different disciplines who are seeking to establish a foundation to develop strategies to control TB, focusing their studies on the bacterium’s inherent resistance to antibiotics, and its ability to persist in host cells.
The majority of treatments for neurological diseases involve drugs. Yet maintaining a steady state of medications in a person’s system may not be effective in targeting abnormal brain activity that is transient and oscillating. Therefore, patients may have to continually take drugs for conditions that only manifest themselves intermittently – such as with seizures – or to take drugs that disrupt normal brain activity. With a view to developing non-pharmacological interventions, this team is dedicated to measuring – and ultimately managing – disrupted brain function occurring at short temporal scales. Focusing initially on Parkinson’s Disease, the team is working to better pinpoint and understand subtle oscillations in abnormal brain activity, and developing and testing visual stimuli systems that have shown promise in disrupting these abnormal oscillations in the brain. The findings from this research will have broader impact with implications for many brain diseases.
The Provincial Health Services Authority and the BC Ministry of Health are jointly sponsoring a clinical practice initiative to improve the quality and availability of Cognitive Behaviour Therapy (CBT) for mental health and addictions in BC. While CBT has been established as an empirically supported treatment for many disorders, there has been a lack of availability of CBT in the community. Research is needed on issues related to dissemination and adoption/uptake of CBT. Another priority is evaluating the success of the joint CBT initiative by examining aspects such as changes in client care outcomes and cost-effectiveness. This award supports the creation of a team that will focus on developing a better, more integrated understanding of the most effective CBT dissemination methods. The team aims for its research effort to lead to increased access to CBT mental health services for British Columbians.
Limited health care resources require organizations to have mechanisms for making funding decisions. Decision makers, however, may not be familiar with tools to assist in maximizing resources. Decision makers also face organizational constraints and other challenges that counter the use of priority setting tools. This award supports the development of a team that will bring together two leading-edge, BC-based research programs on priority setting and resource allocation in health care, while also tapping into other related research areas. The team’s overall aim is to develop a plan that will establish BC as the international lead on research in health care priority setting. The team will structure activities around a series of interactive decision maker-researcher forums addressing key areas for development in health care priority setting.
Personalized medicine is an approach to health care that involves using information about a person's genetic background to design strategies for the detection, treatment and prevention of diseases. But genetic variations, which can cause people to respond in different ways to medication, represent a barrier to personalized medicine. Individual genes or many genes interacting with each other can determine response to medication. Combing through this complicated genetic map is expensive and time-consuming. Data mining, the process of extracting knowledge from a large collection of data, is very effective at extracting the combination of genes that is collectively responsible for a reaction to a certain medicine and treatment. This award supports the emergence of a team that will develop relevant data mining and statistical programs that will help make personalized medicine a reality in BC.
This platform is designed to link clinicians and clinician scientists with genomics researchers to advance their knowledge and accelerate the pace with which new discoveries about the genetic basis of health and disease reach and get applied at the bedside. It proposes a thorough and coordinated process to make the most up-to-date findings from genotyping, genomic sequencing, bioinformatics, genetic epidemiology and family studies available to assist clinicians and clinician research teams in the diagnosis, care and support of people with complex genetic disorders. This will involve the development of a province-wide network that coordinates clinical investigators, leading-edge genomic resources and scientists with expertise in complementary aspects of translational medicine.
Continue reading “BC Clinical Genomics Network”
This platform aims to improve the ability of researchers and the health system to access a range of data sources for the purposes of tracing and evaluating the effectiveness of strategies to treat disease and promote health at the community level. The proposal outlined a plan for providing coordinated and effective access to population health databases (including training), along with the development of integrated data standards and data management processes across BC. This includes support for technologies and methodologies that apply to the analysis of spatial (geographic) and non-spatial datasets. Successful implementation of the platform would position BC as a world leader in the use and protection of health data, and for the production of analyses to support public policy development.
Continue reading “Population Data BC – Phase I”
This platform will unify BC’s proteomics resources (human and technological) to increase British Columbia’s capacity to compete for funding in this emerging field of high technology science. Building on genomics research advances and the human genome project, this science focuses on proteins – chemical messengers produced by genes that act alone or in sequence to regulate all aspects of growth and function at the level of our cells. As such, these proteins fundamentally influence how we grow and function in healthy states and when disease or injury compromises our health. Proteomics researchers study how proteins are produced, how they communicate and interact to fulfill their functions and how their function is influenced by genetic or environmental factors – new knowledge that is key to understanding disease process and for the development of new drugs and other therapeutic interventions.
Continue reading “BC Proteomics Network – Phase I”
