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.
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.
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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 provides the governance and operations strategy to support the creation of the BC BioLibrary to ensure that researchers across the province have access to the highest quality biological specimens to support studies to expand our understanding of health, as well as the origins, course and treatment of disease. It brings together a network of advocates, researchers, clinicians, ethicists and information technology professionals whose goal is to improve access to biological specimens, such as tumour samples, within a framework that supports appropriate standards of quality, security, ethics and privacy in relation to the collection, storage and use of these specimens. The goal is to ensure that high quality, standardized biological materials are available to support the full range of research applications, including clinical trials, drug discovery, biomedical imaging technologies, proteomics, genomics, metabolomics and population-based outcome studies.
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Advances in the high through-put genome sequencing, informatics and proteomics technologies have increased the speed with which researchers are identifying new proteins and compounds that hold promise for the development of new drugs for the treatment of cancer, diabetes, infectious diseases and other acute and chronic health problems. This drug development and commercialization platform provides a structure and process for moving these early stage discoveries out of the laboratory and into commercial development, contributing to economic development and helping to bring much needed pharmaceuticals products into use faster.
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BC’s unique provincial cancer care system – with coordinated diagnosis, treatment and outcome tracking – has made it possible for our province to be a leader in the evolution of improved treatments for a number of different cancers. However, there have been no significant breakthroughs in ovarian cancer treatment for more than a decade. OvCaRe was created by a group of clinicians and scientists with the explicit goal of improving ovarian cancer outcomes by freely sharing data and promoting collaborations within the group and with outside researchers interested in ovarian cancer. OvCaRe has three major goals: to develop diagnostic tests for the most promising tumour markers and offer these tests province wide; to identify novel therapies in laboratories and translate these to the clinic; and to explore markers, diagnostics and potential therapies for ovarian cancers that are unresponsive to current therapies.
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Mutations that cause genome instability are known to contribute to the development of cancer. Most solid malignant tumours exhibit chromosome instability (mis-segregation of chromosomes during cell division), resulting in daughter cells that contain an incorrect number of chromosomes. A better understanding of the basis for this type of genome instability holds promise for identifying new targets for cancer-killing drugs.
Continue reading “Model Systems and Cancer Therapeutics”
