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TIGeR: Translational implementation of genomics for rare diseases

Alberta patients with or suspected of having rare genetic diseases continue to face lengthy diagnostic odysseys, and clinical genome wide sequencing has emerged as a rapid and cost-effective approach to diagnosis. Large scale clinical genomics are not available in Alberta, and Alberta Precision Laboratories (APL) has relied primarily on US commercial labs to provide clinical

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Childhood Asthma and the Microbiome – Precision Health for Life: The Canadian Health Infant Longitudinal Development (CHILD) Study

Asthma is now the most common chronic disease of childhood, affecting 1 in 7 Canadian children. It is also expensive with a total cost to treat estimated at over $2B per year in Canada. This research project focusses on studying the composition of microorganisms living in our intestines (gut microbiome). Using new genomic technologies to

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Pegasus 2 – Personalized genomics for prenatal abnormalities screening using maternal blood: Towards first tier screening and beyond

Non-invasive prenatal screening (NIPS) genomics analysis of cell free DNA in maternal blood has the potential to perform well as a first-tier screening test for aneuploidies. NIPS use as a first-tier screening test would simplify, streamline, and enhance the safety of prenatal screening for fetal aneuploidies and could potentially detect other important fetal abnormalities. However,

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Precision medicine CanPREVENT AMR: Applying precision medicine technologies in Canada to prevent antibody mediated rejection and premature kidney transplant loss

Chronic kidney disease affects 1 in 10 Canadians with estimated costs of over $2 billion/year. This project will employ genetic technologies to: 1) reduce the risk of rejection through better donor-patient matching, 2) monitor the immune response after transplant to predict AMR, 3) enable personalized treatment with powerful drugs to prevent rejection while avoiding infection

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Harnessing multi-omics to deliver innovative diagnostic care for rare genetic diseases in Canada (C4R-SOLVE)

There are about 7,000 rare genetic diseases (RDs) that affect more than one million Canadians. RDs have a devastating impact on Canadians: two-thirds cause significant disability, three-quarters affect children, more than half lead to early death, and almost all have no treatment. The cause of more than one-third of the 7000 RDs is currently unknown.

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Reducing the global burden of infectious diseases through precision population health

The global rise in the prevalence of antibiotic resistant bacteria is a serious problem, threatening all modern medicine. A primary reason is the one-size-fits-all approach to treating infections, which encourages overuse of drugs and results in unnecessary sickness and death. To address this problem, this project is using metabolomics to create an automated analytical system

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Cardiotoxicity Prevention Research Initiative (CAPRI) Phase 1 – Registry

Living with cancer longer is possible due to better cancer treatments but these treatments can damage the cardiovascular system. This can happen in up to 15-20% of people receiving treatment for breast and other aggressive cancers. The purpose of this project is to develop a state-of-the-art database system, called the CArdiotoxicity Prevention Research Investigation (CAPRI).

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Solve-RD Alberta: A precision health ecosystem for rare diseases

Precision Health is an emerging paradigm that promises to improve the health of Albertans by considering each patient’s unique genomic, environmental and lifestyle characteristics to create personalized prevention and treatment plans. To realize the full potential of precision health, newer methods of integrating high quality clinical information with genomic data and methods to improve sharing

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